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
C19orf18	147685	broad.mit.edu	37	19	58483850	58483850	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:58483850C>T	uc002qqv.3	-	2	351	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	83						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCAGGAATTTCATGGGGTTCG	0.483000														22			17		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735374	164735374	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:164735374C>T	uc003fei.3	-	30	3784	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1241	Sucrase.				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	p.R1240R(1)		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)	TCATATAATTCCCGAACCTCT	0.338000										HNSCC(35;0.089)				21			26		0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276155	161276155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:161276155C>T	uc001gaf.4	-	3	615	c.548G>A	c.(547-549)tGg>tAg	p.W183*		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	183					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGCGTAGCCAGCAGTACCG	0.647000														75			56		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12877444	12877444	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:12877444G>A	uc002gnr.4	+	17	1907	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	ARHGAP44_uc010vvk.2_Missense_Mutation_p.R527Q|ARHGAP44_uc010vvl.2_Missense_Mutation_p.R521Q|ARHGAP44_uc002gns.4_Missense_Mutation_p.R321Q|ARHGAP44_uc010vvm.2_Missense_Mutation_p.R521Q|ARHGAP44_uc010vvn.2_Intron	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	527					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGGGTGGCTCGAAGAGGCTCC	0.677000														7			4		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889194	38889194	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:38889194G>A	uc021wvy.1	-	25	4566	c.4367C>T	c.(4366-4368)cCt>cTt	p.P1456L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1456					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)	CGGAGGGAAAGGAATGTGCTC	0.498000														15			12		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587365	158587365	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158587365C>T	uc001fst.1	-	46	6761	c.6562G>A	c.(6562-6564)Gaa>Aaa	p.E2188K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2188					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E2188K(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTCCTGTTTCTTTGAGCAAT	0.338000														12			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049537	9049537	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9049537G>A	uc002mkp.3	-	4	32298	c.32094C>T	c.(32092-32094)atC>atT	p.I10698I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10700	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAAATTGGGGATTGTTCTGG	0.468000														105			83		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092077	87092077	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:87092077G>A	uc003uiv.1	-	3	359	c.283C>T	c.(283-285)Cca>Tca	p.P95S	ABCB4_uc003uiw.1_Missense_Mutation_p.P95S|ABCB4_uc003uix.1_Missense_Mutation_p.P95S|ABCB4_uc003uiy.3_Missense_Mutation_p.P95S	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	95	ABC transmembrane type-1 1.		P -> S.		cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TGCTTACCTGGAAAGGAGAAG	0.363000														27			18		0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148456715	148456715	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:148456715G>A	uc010lpg.3	+	5	1136	c.610G>A	c.(610-612)Gtt>Att	p.V204I	CUL1_uc003wey.3_Missense_Mutation_p.V204I|CUL1_uc003wez.3_Missense_Mutation_p.V94I	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	204					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTAGTGGAGTTGTACAGTC	0.299000														21			20		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990557	990557	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:990557C>T	uc003zgw.1	+	1	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	324					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557000														10			27		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362865	40362865	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:40362865G>A	uc002omp.4	-	31	15213	c.15205C>T	c.(15205-15207)Ccc>Tcc	p.P5069S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5069						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCAGAGGGACTCAGCACC	0.647000														119			77		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625512	33625512	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:33625512C>T	uc001bxb.3	-	2	1176	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	180						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCGAAGGCCTCGCCGATAGTG	0.652000														23			12		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753484	45753484	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:45753484G>A	uc003tne.4	+	19	3268	c.3250G>A	c.(3250-3252)Ggc>Agc	p.G1084S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1084					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGCCTTCAGGGCAGACGTCC	0.607000														53			43		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169390724	169390724	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:169390724C>T	uc001gga.1	-	2	1113	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1orf114_uc001gfz.1_Silent_p.G315G|C1orf114_uc009wvq.1_Silent_p.G315G|C1orf114_uc001ggb.3_Silent_p.G315G|C1orf114_uc001ggc.1_Silent_p.G315G	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	315										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					GATTAGATTTCCCATTCCCTT	0.458000														59			78		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076639	40076639	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:40076639A>G	uc001rmc.3	+	7	1080	c.913A>G	c.(913-915)Atc>Gtc	p.I305V	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	305										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAAAATATGATCAATGTATT	0.313000														24			17		0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197010643	197010643	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:197010643C>T	uc002utk.3	-	3	796	c.472G>A	c.(472-474)Gat>Aat	p.D158N	STK17B_uc010fsh.3_Missense_Mutation_p.D158N	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	158	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ACCTTTAAATCAAGGTGTACA	0.328000														25			8		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754528	49754528	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:49754528G>A	uc003ozu.3	-	0	526	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	125					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)					TCCTCCACATGAAAGCGCAGG	0.512000														38			31		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400521	132400521	+	Silent	SNP	C	T	T	rs144046347	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:132400521C>T	uc001uje.3	+	18	1963	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	565					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTTGCACGTCGTCCGCCCCA	0.697000														48			48		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065797	3065797	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:3065797C>T	uc021tbb.1	-	0	226	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CLDN6_uc002csu.4_Missense_Mutation_p.D76N	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	76					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCTGCAGGTCCTGTGGCAGC	0.642000														44			31		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364537	47364537	+	RNA	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:47364537G>A	uc001cqo.1	-	1		c.338C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GGAGAATCTTGACATAGTCTG	0.473000														41			15		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:43318571G>A	uc001jaj.3	+	19	3496	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000														77			4		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775831	38775831	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:38775831C>T	uc003gtj.3	-	3	2019	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	TLR10_uc021xnk.1_Missense_Mutation_p.E447K|TLR10_uc003gti.3_Missense_Mutation_p.E461K|TLR10_uc021xnl.1_Missense_Mutation_p.E461K|TLR10_uc003gtk.3_Missense_Mutation_p.E461K|TLR10_uc021xnm.1_Missense_Mutation_p.E461K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	461					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGAATAGTCTCTTTAGGTACA	0.348000														38			33		0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110422958	110422958	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:110422958G>A	uc003ptv.1	-	9	2192	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	WASF1_uc003ptw.1_Missense_Mutation_p.P452L|WASF1_uc003ptx.1_Missense_Mutation_p.P452L|WASF1_uc003pty.1_Missense_Mutation_p.P452L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	452					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TAGCCCAGAGGGAGGATGAGC	0.557000														84			52		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815879	46815879	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:46815879G>A	uc002peh.3	+	7	1025	c.994G>A	c.(994-996)Gag>Aag	p.E332K	HIF3A_uc002pef.2_3'UTR|HIF3A_uc002peg.4_Missense_Mutation_p.E332K|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E276K|HIF3A_uc002pej.2_Missense_Mutation_p.E263K|HIF3A_uc010xxy.2_Missense_Mutation_p.E263K|HIF3A_uc002pel.3_Missense_Mutation_p.E330K|HIF3A_uc010xxz.2_Missense_Mutation_p.E281K	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCCAGTCGGAGAGTATCGT	0.607000														65			42		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47834483	47834483	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:47834483G>A	uc001ngm.3	-	14	1988	c.1903C>T	c.(1903-1905)Ccg>Tcg	p.P635S	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.P635S	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	635					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GCCTTTTCCGGAGACTGTAGG	0.378000														39			25		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245837	48245837	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:48245837G>A	uc002iqi.3	+	4	524	c.488G>A	c.(487-489)gGa>gAa	p.G163E	SGCA_uc010wmh.1_Missense_Mutation_p.G61E|SGCA_uc002iqj.3_Missense_Mutation_p.G163E|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	163					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCCTTGGGGGGACTCTGGGAG	0.652000														1			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571228	179571228	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179571228C>T	uc021vsy.1	-	98	25866	c.25641G>A	c.(25639-25641)agG>agA	p.R8547R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R5208R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9474	Ig-like 68.						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)			CTTGTTTCTTCCTTTCATCCA	0.383000														18			11		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112920141	112920141	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:112920141C>T	uc003kqn.3	+	25	3992	c.3790C>T	c.(3790-3792)Cct>Tct	p.P1264S		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1264	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTACCCAAGTCCTTGTGCTAG	0.403000														60			46		0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28206306	28206306	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:28206306C>T	uc001bpc.4	+	2	415	c.387C>T	c.(385-387)ctC>ctT	p.L129L	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Silent_p.L129L|C1orf38_uc010ofn.2_Silent_p.L129L|C1orf38_uc010ofo.2_Silent_p.L129L	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	129	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACCAGCTCCTCATGCTTG	0.612000														34			45		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872622	43872622	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:43872622G>A	uc001uza.4	-	11	1606	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	ENOX1_uc001uzc.4_Missense_Mutation_p.L436F|ENOX1_uc001uzb.4_Missense_Mutation_p.L436F	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	436					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGCCAGCGGAGACTGTCATTC	0.522000														40			38		0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33448814	33448814	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:33448814C>T	uc002hix.3	+	0	184	c.102C>T	c.(100-102)ccC>ccT	p.P34P	RFFL_uc002hiq.2_5'Flank|RFFL_uc002hir.2_5'Flank|RFFL_uc010wce.1_5'Flank|RFFL_uc010wcd.1_5'Flank|RFFL_uc002hit.2_5'Flank|RFFL_uc002hiu.2_5'Flank|RFFL_uc002his.2_5'Flank|RFFL_uc010ctk.2_5'Flank|RFFL_uc010wcf.1_5'Flank|RFFL_uc002hiw.1_5'Flank|RFFL_uc002hiv.1_5'Flank|RFFL_uc010ctl.1_5'Flank|RFFL_uc010ctm.1_5'Flank	NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	34										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TGCCAAAACCCTTTTCAAACC	0.483000														53			44		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69970484	69970484	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:69970484G>A	uc001opj.3	+	8	1231	c.926G>A	c.(925-927)gGa>gAa	p.G309E	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.G281E|ANO1_uc010rqk.2_Missense_Mutation_p.G44E	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	309					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCACGCTATGGAGTTTTCTAT	0.582000														37			25		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900456	202900456	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:202900456C>T	uc002uyw.1	+	0	1147	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	362					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCACTTGGTTCCTGGCGGCCG	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			34		0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340779	160340779	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:160340779C>T	uc021pbs.1	+	0	258	c.258C>T	c.(256-258)atC>atT	p.I86I	NHLH1_uc001fwa.2_Silent_p.I86I	NM_005598	NP_005589	Q02575	HEN1_HUMAN	Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA.	86					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGAACGCATCCGCGTGGAAG	0.682000														15			15		0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134724752	134724752	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:134724752G>A	uc003lam.1	-	1	242	c.32C>T	c.(31-33)aCc>aTc	p.T11I	H2AFY_uc003lao.1_Missense_Mutation_p.T11I|H2AFY_uc003lan.1_Missense_Mutation_p.T11I|H2AFY_uc011cxz.1_Missense_Mutation_p.T11I|H2AFY_uc003las.1_Missense_Mutation_p.T11I|H2AFY_uc003lat.1_Missense_Mutation_p.T11I	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	11	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.S10P(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACGTCTTGGTGGACTTCTT	0.617000														38			17		0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842737	227842737	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:227842737G>A	uc021pjy.1	+	3	1127	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ZNF678_uc001hqw.2_Silent_p.E262E|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	317					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATACTGGAGAGAAACCTTACA	0.378000														36			32		0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078006	46078007	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:46078006_46078007CC>TT	uc002zft.3	+	0	158_159	c.110_111CC>TT	c.(109-111)ccc>cTT	p.P37L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	37	14 X 5 AA approximate repeats.					intermediate filament		p.P37P(4)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGTGCATGCCCGTGAGCTGCA	0.649000														97			55		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35425314	35425314	+	Silent	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:35425314T>C	uc021wcx.1	-	12	3793	c.3453A>G	c.(3451-3453)gaA>gaG	p.E1151E	SOGA1_uc002xgd.1_Silent_p.E913E|SOGA1_uc021wcy.1_5'Flank	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	913										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAAGCTCAACTTCGGAAACAG	0.577000														57			33		0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876802	38876802	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:38876802T>C	uc002oij.1	-	2	1235	c.1100A>G	c.(1099-1101)aAc>aGc	p.N367S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.N284S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	367	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.F366F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGCCCCGTTGAAGCGGAA	0.697000														4			4		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329538	107329538	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:107329538G>A	uc003vep.3	+	8	1266	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	348					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	p.E348K(2)|p.S347S(1)		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						CTTGTTCTCGGAGATGCTGGC	0.443000									Pendred syndrome					72			44		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482282	233482282	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:233482282C>T	uc001hvt.4	+	1	1161	c.900C>T	c.(898-900)acC>acT	p.T300T	KIAA1804_uc001hvs.1_Silent_p.T300T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	300	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ACAGGACCACCAAAATGAGCA	0.458000														43			47		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238471	27238471	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:27238471G>A	uc001bnf.3	-	1	775	c.639C>T	c.(637-639)cgC>cgT	p.R213R	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	213	Ligand-binding (By similarity).		R -> C (in early-onset obesity; Japanese population; loss of repressor activity).		cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|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)		CACGGGTCAGGCGGCCTTGGG	0.627000														61			28		0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110084	155110084	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:155110084G>A	uc001fhj.4	+	3	430	c.330G>A	c.(328-330)ctG>ctA	p.L110L	SLC50A1_uc001fhk.4_Silent_p.L55L|SLC50A1_uc001fhl.4_Intron	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	110					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCCTTCTCCTGGGTTATGGCT	0.562000														87			32		0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805372	31805372	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:31805372C>T	uc002wyr.3	+	0	238	c.30C>T	c.(28-30)atC>atT	p.I10I	BPIFA3_uc002wys.3_Silent_p.I10I	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	10						extracellular region	lipid binding										GGCTCCTCATCTTCCTCGGGT	0.592000														54			33		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142215958	142215958	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:142215958C>T	uc003eux.4	-	32	5757	c.5635G>A	c.(5635-5637)Gat>Aat	p.D1879N		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1879	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTAGAGAATCTTCTTGAGAA	0.453000								Other conserved DNA damage response genes						43			25		0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23569288	23569288	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:23569288A>G	uc002dlv.3	+	1	245	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	15										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGAACCTGGCATGGACACGGA	0.741000														7			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910920	131910920	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:131910920G>A	uc003vra.4	-	8	2211	c.1982_splice	c.e8+1	p.S661_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	661	PSI 2.					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						GGCCACTTACGAATTGTGGAC	0.512000														91			67		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466597	56466597	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:56466597C>T	uc002qmh.3	+	2	1244	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	NLRP8_uc010etg.3_Silent_p.S391S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	391	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTCTTCTCCATGTGCCGGG	0.463000														73			40		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119115183	119115183	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:119115183G>A	uc004bjn.3	+	15	4544	c.4163G>A	c.(4162-4164)cGg>cAg	p.R1388Q	PAPPA_uc011lxq.2_Missense_Mutation_p.R763Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1388	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGATCCTCTCGGAAGTCAAAG	0.507000														3			9		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46802353	46802353	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:46802353G>A	uc011dwh.1	+	10	1740	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	MEP1A_uc010jzh.1_Missense_Mutation_p.V550M|MEP1A_uc011dwg.1_Missense_Mutation_p.V272M|MEP1A_uc011dwi.1_Missense_Mutation_p.V450M	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	550	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCCGTCCAGGGTGGGAACCTA	0.438000														68			55		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74719433	74719433	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:74719433G>A	uc002fdb.2	-	4	1212	c.771C>T	c.(769-771)ttC>ttT	p.F257F	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	257	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGGGAGATTCGAATTTCTTCA	0.398000														2			13		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644647	169644647	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:169644647G>A	uc003fgd.3	+	5	864	c.597G>A	c.(595-597)gaG>gaA	p.E199E	SAMD7_uc003fge.3_Silent_p.E199E|SAMD7_uc011bpo.2_Silent_p.E100E	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	199										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATGCTGAGAGTTCCAAAA	0.463000														25			19		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16298607	16298607	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:16298607G>A	uc010ktx.2	-	6	964	c.964C>T	c.(964-966)Cat>Tat	p.H322Y	ISPD_uc010kty.2_Missense_Mutation_p.H272Y|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	322					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCCAGCATGACCCAGAGCC	0.343000										Multiple Myeloma(15;0.18)				23			12		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108688571	108688571	+	Splice_Site	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:108688571T>A	uc003dxl.3	-	26	2638	c.2551_splice	c.e26-1	p.L851_splice	MORC1_uc011bhn.2_Splice_Site_p.L830_splice	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	851					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						CTGCTCCAGCTGTTTTCATAA	0.358000														29			31		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498182	32498182	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:32498182C>T	uc003amc.3	+	12	1873	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	SLC5A1_uc011alz.2_Silent_p.I414I	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	541					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATCACCATCGTGGTCATCT	0.488000														133			71		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035745	88035745	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:88035745C>T	uc011ccz.2	+	11	2035	c.1760C>T	c.(1759-1761)cCc>cTc	p.P587L	AFF1_uc003hqj.4_Missense_Mutation_p.P580L|AFF1_uc003hqk.4_Missense_Mutation_p.P580L|AFF1_uc011cda.2_Missense_Mutation_p.P218L	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	580						nucleus	sequence-specific DNA binding transcription factor activity			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)		GCCCCCCACCCCGGAAAGAGG	0.597000														12			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452311	179452311	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179452311C>T	uc021vsy.1	-	254	56246	c.56021G>A	c.(56020-56022)gGa>gAa	p.G18674E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12369E|TTN_uc021vta.1_Missense_Mutation_p.G12302E|TTN_uc021vtb.1_Missense_Mutation_p.G12177E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19601	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATATTTTCCTGAGTCATC	0.428000														16			9		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64005849	64005849	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:64005849A>T	uc002amp.3	-	22	4314	c.4166T>A	c.(4165-4167)tTc>tAc	p.F1389Y	HERC1_uc010uil.1_Missense_Mutation_p.F373Y	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1389					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTGAGAGGAAACACTGAAA	0.448000														10			7		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100865828	100865828	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:100865828C>T	uc003yiv.3	+	55	10397	c.10286C>T	c.(10285-10287)cCc>cTc	p.P3429L	VPS13B_uc003yiw.3_Missense_Mutation_p.P3404L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3429					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAGCTGGTCCCCTCCCTGGG	0.537000														18			19		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744095	135744095	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135744095T>A	uc002tue.1	-	6	2378	c.2347A>T	c.(2347-2349)Att>Ttt	p.I783F	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.I670F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.I511F|YSK4_uc002tui.4_Missense_Mutation_p.I800F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	783							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)		ATGGGATGAATTTCATCTTTG	0.393000														38			28		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000														17			2		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323851	29323851	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29323851C>T	uc011dlo.2	-	0	204	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAATATATTTCCTCCCAAAGT	0.363000														34			33		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806585	97806585	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:97806585C>T	uc011bgs.2	+	0	569	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTCAAAATTTCATGCAATGGT	0.313000														28			17		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:57143616G>A	uc003dil.3	-	4	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_uc003dik.3_Missense_Mutation_p.P143S|IL17RD_uc010hna.3_Missense_Mutation_p.P23S|IL17RD_uc011bex.1_Missense_Mutation_p.P23S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000														28			25		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882350	43882350	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:43882350G>A	uc002xnm.1	-	1	132	c.110C>T	c.(109-111)cCt>cTt	p.P37L		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	37	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGATTTCTTAGGAGGACAGAC	0.507000														21			14		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875922	16875922	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:16875922C>T	uc002neu.4	+	9	2751	c.2329C>T	c.(2329-2331)Cct>Tct	p.P777S	NWD1_uc002net.4_Missense_Mutation_p.P642S|NWD1_uc002nev.4_Missense_Mutation_p.P571S|NWD1_uc021uqg.1_Missense_Mutation_p.P642S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	777							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGTGTGCCCCTCACCTGGA	0.637000														41			25		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849900	35849900	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:35849900G>A	uc002nzd.3	+	1	183	c.108G>A	c.(106-108)ctG>ctA	p.L36L	FFAR3_uc021usm.1_Silent_p.L36L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	36						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGGCCCTGGTGGTCTTCG	0.647000														169			49		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98761987	98761987	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:98761987T>C	uc003htt.2	-	8	1231	c.1141A>G	c.(1141-1143)Aga>Gga	p.R381G		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	381										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GCATGTTTTCTTTTAGCCACT	0.413000														53			50		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517650	158517650	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158517650G>A	uc010pil.2	-	0	246	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTTGGGGCTGATGACTGTGA	0.453000														86			49		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825509	26825509	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:26825509G>A	uc001zbb.3	-	6	910	c.807C>T	c.(805-807)atC>atT	p.I269I	GABRB3_uc021sgg.1_Silent_p.I142I|GABRB3_uc021sgh.1_Silent_p.I128I|GABRB3_uc001zaz.3_Silent_p.I213I|GABRB3_uc001zba.3_Silent_p.I213I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	213					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGCTCCACGATGGAGAACT	0.567000														66			42		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72941376	72941376	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:72941376G>A	uc001xna.4	+	9	1185	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	RGS6_uc021rvv.1_Missense_Mutation_p.R186Q|RGS6_uc010ttn.2_Missense_Mutation_p.R221Q|RGS6_uc021rvw.1_Missense_Mutation_p.R221Q|RGS6_uc021rvx.1_Missense_Mutation_p.R221Q|RGS6_uc021rvy.1_Missense_Mutation_p.R221Q|RGS6_uc021rvz.1_Missense_Mutation_p.R221Q|RGS6_uc001xmy.4_Missense_Mutation_p.R221Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R221Q|RGS6_uc021rwa.1_Missense_Mutation_p.R221Q|RGS6_uc021rwb.1_Missense_Mutation_p.R221Q|RGS6_uc010ttp.1_Missense_Mutation_p.R152Q|RGS6_uc021rwc.1_Missense_Mutation_p.R82Q	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	221					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CGAAAATGTCGACGTTTGAAG	0.343000														23			9		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176151	104176151	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:104176151G>A	uc001kvg.1	-	1	1172	c.645C>T	c.(643-645)ttC>ttT	p.F215F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.F215F|PSD_uc001kvi.1_Silent_p.F215F|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	215					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCTGGTTCAGGAATCCAGTGT	0.622000														0			4		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671446	99671447	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:99671446_99671447CC>TT	uc002bup.3	+	4	2998_2999	c.2878_2879CC>TT	c.(2878-2880)ccc>TTc	p.P960F	SYNM_uc002buo.3_Missense_Mutation_p.P960F|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	961	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAACCCTTCCCGAGCGCATG	0.634000														13			9		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:12541141C>T	uc002mtu.3	-	3	2043	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	615					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403000														36			4		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382802	108382803	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:108382802_108382803GG>AA	uc001pkk.3	-	5	3542_3543	c.3431_3432CC>TT	c.(3430-3432)acc>aTT	p.T1144I	EXPH5_uc010rvz.2_Missense_Mutation_p.T988I|EXPH5_uc010rvy.2_Missense_Mutation_p.T956I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1144					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCATGCCTGAGGTCAATGGCTT	0.465000														26			14		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789802	30789802	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:30789802G>A	uc002wxn.2	-	1	397	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGTTGCGGGAGGCTGTGAG	0.542000														40			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13842003	13842003	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13842003C>T	uc003jfd.2	-	32	5324	c.5282G>A	c.(5281-5283)cGa>cAa	p.R1761Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1761	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACAGAATTCGATCATAGAT	0.328000									Kartagener syndrome					36			22		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561041	41561041	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:41561041G>A	uc002yyq.1	-	11	2933	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	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.	827	Ig-like C2-type 9.				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)				CAGGGTTAATGATTCGGTCCT	0.512000														88			55		0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85826257	85826257	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:85826257C>T	uc002spy.2	-	7	967	c.758G>A	c.(757-759)gGg>gAg	p.G253E	TMEM150A_uc002spx.2_Missense_Mutation_p.G169E|TMEM150A_uc002spz.2_Missense_Mutation_p.G200E	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GCTGCTGCTCCCGGAGGACTT	0.632000														44			31		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151508126	151508126	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:151508126C>T	uc009wmw.3	+	16	3189	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D	CGN_uc010pde.2_Silent_p.D9D	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	1009						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)			CTCGGCAGGACCTGGAGTGTG	0.567000														43			56		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741464	48741464	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:48741464C>T	uc002isl.3	+	9	1410	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	ABCC3_uc002isk.4_Missense_Mutation_p.L444F|ABCC3_uc002ism.3_Missense_Mutation_p.P156L	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	444	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GATCTACTTCCTCTGGCAGGT	0.557000														71			63		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227753	38227753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:38227753C>T	uc009vvi.3	-	2	260	c.174G>A	c.(172-174)tgG>tgA	p.W58*	EPHA10_uc001cbw.4_Nonsense_Mutation_p.W58*	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	58						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGATCTCCTCCCACTGGGGAC	0.592000														28			24		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98002110C>T	uc003dsj.1	+	0	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378000														48			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664612	179664612	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179664612C>T	uc021vsy.1	-	4	834	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TTN_uc021vsz.1_Silent_p.K203K|TTN_uc021vta.1_Silent_p.K203K|TTN_uc021vtb.1_Silent_p.K203K|TTN_uc002unb.2_Silent_p.K203K|TTN_uc002und.3_Silent_p.K203K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	203							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)			TTGTCTTTGTCTTTTTAGCAG	0.398000														33			24		0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43255108	43255108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:43255108C>T	uc002xmj.3	-	3	479	c.351G>A	c.(349-351)tgG>tgA	p.W117*		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	117					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CAGCCTGGTTCCAGGGGATTG	0.592000									Adenosine Deaminase Deficiency					29			32		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911653	46911653	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:46911653G>A	uc001ndn.4	-	14	2177	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	645					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACTGTGATGGCGAAGGGATG	0.547000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			54		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914167	28914167	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:28914167C>T	uc002dro.1	+	18	2863	c.2679C>T	c.(2677-2679)gcC>gcT	p.A893A	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.A893A|ATP2A1_uc002drp.1_Silent_p.A768A	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	893					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTTCGAGGCCCCCGAGCCCA	0.617000														25			18		0	0	1	0	0
MYCL1	4610	broad.mit.edu	37	1	40366904	40366904	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:40366904C>A	uc001cer.2	-	1	420	c.293G>T	c.(292-294)tGc>tTc	p.C98F	MYCL1_uc001ces.2_Missense_Mutation_p.C68F|MYCL1_uc001cet.2_Missense_Mutation_p.C98F	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	68						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCTCCGGTGCACCCTCCGGG	0.726000			A		small cell lung									4			4		0.00024832	0.000249437	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157691406	157691406	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:157691406C>T	uc003wno.3	-	11	1868	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E566K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E554K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E545K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E606K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	583						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAGAGGTTTCCTCCAGTTTG	0.512000														109			84		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909097	92909097	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:92909097C>T	uc001yak.3	+	5	542	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC24A4_uc001yai.3_Silent_p.I109I|SLC24A4_uc010twm.2_Silent_p.I173I|SLC24A4_uc010auj.3_Silent_p.I64I|SLC24A4_uc010twn.2_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	173						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGGCACCATCGTGGGCTCTG	0.612000														82			43		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34071983	34071983	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:34071983C>T	uc002hjv.2	-	5	2561	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	845					cell cycle arrest	cytoplasm|cytoskeleton		p.E845E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGctctttctcctcctttcct	0.602000														22			16		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089580	32089580	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:32089580C>T	uc003jhl.3	+	19	6414	c.6026C>T	c.(6025-6027)cCc>cTc	p.P2009L	PDZD2_uc003jhm.3_Missense_Mutation_p.P2009L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2009					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.P2009P(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTCTGAACCCGACAGAGGT	0.612000														140			89		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358371	24358371	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:24358371C>T	uc003xeb.3	+	18	2184	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	ADAM7_uc003xec.3_Missense_Mutation_p.R463C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	691					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R691C(2)|p.R691H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTATTAGTTCGTTACCGAAA	0.373000														47			40		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083925	176083925	+	Silent	SNP	C	T	T	rs61753280		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:176083925C>T	uc003met.3	+	7	1015	c.786C>T	c.(784-786)ctC>ctT	p.L262L	TSPAN17_uc003mes.3_Silent_p.L177L|TSPAN17_uc003meu.3_Silent_p.L259L|TSPAN17_uc003mew.3_Splice_Site_p.L259_splice	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	259						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGAACCTCGTGAGTGACA	0.662000														33			22		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320019	79320019	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:79320019G>A	uc010mpk.3	-	7	7295	c.7171C>T	c.(7171-7173)Ccg>Tcg	p.P2391S	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P2213S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2391					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGTGTACGGTGCCAGCGAC	0.498000														9			41		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036205	57036205	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:57036205C>T	uc010zzp.1	-	4	1504	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	APCDD1L_uc002xze.1_Missense_Mutation_p.G383R	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	383						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACCAGGCCCCCGCACCCCCA	0.632000														70			48		0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629923	9629923	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:9629923T>A	uc003jem.1	-	0	541	c.222A>T	c.(220-222)gaA>gaT	p.E74D		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	74					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.I73M(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACATGATGAATTCTATGAAGA	0.393000														12			11		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849945	35849945	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:35849945C>T	uc002nzd.3	+	1	228	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FFAR3_uc021usm.1_Silent_p.D51D	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	51						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCGTGGACGTGCTCCTGC	0.662000														185			51		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32924957	32924957	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:32924957C>T	uc003amx.3	-	9	1296	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	SYN3_uc003amy.3_Silent_p.V378V|SYN3_uc003amz.3_Silent_p.V377V|SYN3_uc011amc.1_Silent_p.V12V	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	378	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						TGTCCTCTTCCACATGCTCTC	0.597000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			34		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129256	1129256	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:1129256C>T	uc021taf.1	+	1	459	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.L130L	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	130					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGTCTTCTGCCTGACAGTCAT	0.706000														43			17		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802292	43802292	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:43802292C>T	uc002zbb.2	-	8	1035	c.834G>A	c.(832-834)ttG>ttA	p.L278L	TMPRSS3_uc002zay.2_Silent_p.L36L|TMPRSS3_uc002zaz.2_Silent_p.L151L|TMPRSS3_uc002zba.2_Silent_p.L151L|TMPRSS3_uc002zbc.2_Silent_p.L278L|TMPRSS3_uc002zbd.3_Silent_p.L278L	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	278	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTGGATTGTCCAACAGGGAAA	0.522000														39			18		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55142732	55142732	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:55142732G>A	uc002qgj.3	+	3	385	c.45G>A	c.(43-45)ctG>ctA	p.L15L	LILRB1_uc010erp.1_Silent_p.L32L|LILRB1_uc002qgl.3_Silent_p.L15L|LILRB1_uc002qgk.3_Silent_p.L15L|LILRB1_uc002qgm.3_Silent_p.L15L|LILRB1_uc010erq.3_Silent_p.L15L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	15					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCTGAGTCTGGGCCCCAGGA	0.672000										HNSCC(37;0.09)				70			48		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	226103	226103	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:226103C>T	uc011clv.1	+	4	677	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	SDHA_uc003jao.4_Missense_Mutation_p.R188W|SDHA_uc011clw.2_Missense_Mutation_p.R140W|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	188					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCAGGCCCATCGGTGCTGCTG	0.547000									Familial Paragangliomas					66			59		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967396	106967396	+	RNA	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:106967396G>A	uc021ser.1	-	263		c.10104C>T								Parts of antibodies, mostly variable regions.																		CTCTAAACTGGAAAAAATCCC	0.562000														39			39		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869428	150869428	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:150869428G>A	uc022cgt.1	+	3	668	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PRRG3_uc004few.2_Missense_Mutation_p.E207K	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	207						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGTGAGGAGGCCAGCGT	0.622000														6			62		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678630	87678630	+	Silent	SNP	C	T	T	rs140186033	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:87678630C>T	uc002fkd.3	+	1	1403	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	383	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGCTGAGATCGCGGCTTCCA	0.672000														1			18		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:11546771G>C	uc010shk.1	-	2	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000														294			6		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66976133	66976133	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:66976133C>T	uc002eqr.3	+	8	2455	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	CES2_uc002eqq.3_Silent_p.L485L|CES2_uc002eqs.3_Silent_p.L328L	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	421					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TCCCTGCACTCCAAGTAGCAC	0.572000														13			40		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24790364	24790365	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:24790364_24790365CC>TT	uc001iru.4	+	8	2294_2295	c.1891_1892CC>TT	c.(1891-1893)ccc>TTc	p.P631F	KIAA1217_uc001irs.3_Missense_Mutation_p.P551F|KIAA1217_uc001irt.4_Missense_Mutation_p.P596F|KIAA1217_uc010qcy.2_Missense_Mutation_p.P596F|KIAA1217_uc010qcz.2_Missense_Mutation_p.P596F|KIAA1217_uc001irv.1_Missense_Mutation_p.P446F|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P314F|KIAA1217_uc001irz.3_Missense_Mutation_p.P314F|KIAA1217_uc001irx.3_Missense_Mutation_p.P314F|KIAA1217_uc001iry.3_Missense_Mutation_p.P314F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	631					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACGGTGCCTCCCAGCCAGCCT	0.594000														7			22		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136677896	136677896	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:136677896C>T	uc011edg.2	-	15	2288	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	MAP7_uc011edf.2_Missense_Mutation_p.G635E|MAP7_uc010kgu.3_Missense_Mutation_p.G672E|MAP7_uc011edh.2_Missense_Mutation_p.G635E|MAP7_uc010kgv.3_Missense_Mutation_p.G672E|MAP7_uc010kgs.3_Missense_Mutation_p.G504E|MAP7_uc011edi.2_Missense_Mutation_p.G504E|MAP7_uc010kgq.2_Missense_Mutation_p.G556E|MAP7_uc003qgz.3_Missense_Mutation_p.G650E|MAP7_uc003qha.2_Missense_Mutation_p.G613E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	650					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTTTCCATTTCCCGGAGCGTT	0.443000														30			26		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479517	156479517	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:156479517C>T	uc010jij.1	-	3	713	c.528G>A	c.(526-528)acG>acA	p.T176T	HAVCR1_uc011ddl.1_Silent_p.T7T|HAVCR1_uc003lwi.2_Silent_p.T176T|HAVCR1_uc021ygj.1_Silent_p.T176T|HAVCR1_uc021ygk.1_Silent_p.T7T|HAVCR1_uc011ddm.2_Silent_p.T176T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	171	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGAACAGTCGTTGTCGTTG	0.468000														347			333		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762731	3762731	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:3762731G>A	uc002lyq.4	+	0	67	c.33G>A	c.(31-33)cgG>cgA	p.R11R	APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	11						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTACCCGGACGTGGGCCG	0.622000														37			31		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923280	26923281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:26923280_26923281GG>AA	uc001uqr.1	+	2	299_300	c.276_277GG>AA	c.(274-279)aaggtg>aaAAtg	p.V93M	CDK8_uc001uqs.1_Missense_Mutation_p.V93M|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	93	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGATAGGAAGGTGTGGCTTCT	0.411000														113			64		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54910051	54910051	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:54910051G>A	uc001sgc.4	+	9	1049	c.970G>A	c.(970-972)Gag>Aag	p.E324K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E274K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	324					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.K323N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGACATAAAGGAGAGCAAGGA	0.483000														69			21		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156227	33156227	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:33156227C>T	uc003ocx.1	-	3	746	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	COL11A2_uc003ocy.1_Missense_Mutation_p.R173Q|COL11A2_uc003ocz.1_Missense_Mutation_p.R173Q|COL11A2_uc003oda.3_Missense_Mutation_p.R173Q	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	173	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGAGAGGCCGGGTGACTCG	0.542000														80			47		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17590562	17590562	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:17590562A>C	uc002zly.3	+	12	2584	c.2453A>C	c.(2452-2454)gAg>gCg	p.E818A		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	818	Poly-Glu.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAGGAAGAGGAGCAGGACCCA	0.652000														9			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297909	197297909	+	Missense_Mutation	SNP	G	A	A	rs62636261		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:197297909G>A	uc001gtz.3	+	1	637	c.428G>A	c.(427-429)aGa>aAa	p.R143K	CRB1_uc010poz.2_Missense_Mutation_p.R74K|CRB1_uc001gty.2_Missense_Mutation_p.R143K|CRB1_uc009wza.3_Missense_Mutation_p.R143K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.R143K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	143	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATGCTGGAAGATTCTGTGAG	0.507000														17			8		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272161	164272161	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:164272161G>A	uc003iqn.3	+	3	918	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NPY5R_uc021xtw.1_Missense_Mutation_p.E246K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	246					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				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)				GTCCAACAAAGAAAACAGACT	0.383000														29			22		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584355	8584355	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:8584355C>T	uc003glk.3	+	1	1259	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	256					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P256P(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTGCTTTGCCCCGTATGTCAT	0.622000														63			29		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156447349	156447349	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:156447349C>T	uc003wmo.3	+	3	584	c.354C>T	c.(352-354)ctC>ctT	p.L118L	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Silent_p.L118L|RNF32_uc003wmq.3_Silent_p.L118L|RNF32_uc003wmr.3_Silent_p.L118L|RNF32_uc003wms.3_Silent_p.L118L|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Silent_p.L118L	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	118						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGCGCTCTCTCCTGCAAGGGG	0.532000														43			29		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419523	129419523	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:129419523C>T	uc021zfb.1	+	3	707	c.602C>T	c.(601-603)tCa>tTa	p.S201L	LAMA2_uc003qbn.3_Missense_Mutation_p.S201L|LAMA2_uc003qbo.3_Missense_Mutation_p.S201L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	201	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGCACTTCATTTTACTCC	0.433000														39			44		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152770686	152770686	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:152770686C>T	uc021zhb.1	-	25	3709	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	SYNE1_uc003qot.4_Silent_p.E1169E|SYNE1_uc003qou.4_Silent_p.E1162E|SYNE1_uc010kjb.1_Silent_p.E1145E|SYNE1_uc003qow.3_Silent_p.E457E|SYNE1_uc003qox.1_Silent_p.E678E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1162					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACGTTTAACCTCTCCGTGGT	0.403000										HNSCC(10;0.0054)				41			38		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950229	118950229	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:118950229C>T	uc004bjn.3	+	1	1593	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	PAPPA_uc011lxp.1_Silent_p.S197S|PAPPA_uc011lxq.2_Silent_p.S197S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	404	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCAACTCCTCCCTTCGCCGCC	0.617000														13			34		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707571	96707571	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:96707571C>T	uc010avm.1	+	2	1102	c.906C>T	c.(904-906)tcC>tcT	p.S302S	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.S275S|BDKRB2_uc001yfg.2_Silent_p.S302S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	302					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GCATCCTCTCCAGCTGCCAGG	0.572000														42			10		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005498	42005498	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:42005498C>T	uc011kbh.2	-	14	3264	c.3173G>A	c.(3172-3174)cGa>cAa	p.R1058Q	GLI3_uc011kbg.2_Missense_Mutation_p.R999Q	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1058					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	p.S1057F(1)		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						GTGGAAGTTTCGGGACTGGCC	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					31			27		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76374871	76374871	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:76374871G>A	uc021rkq.1	+	6	849	c.514G>A	c.(514-516)Ggt>Agt	p.G172S	LMO7_uc010thv.2_Missense_Mutation_p.G224S|LMO7_uc001vjt.1_Missense_Mutation_p.G172S|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Missense_Mutation_p.G133S|LMO7_uc001vju.1_Non-coding_Transcript	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	224						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.T172T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGTGGCTACGGTGACATCTG	0.438000														42			41		0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43200781	43200781	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:43200781G>A	uc001cht.1	-	4	842	c.651C>T	c.(649-651)tcC>tcT	p.S217S	CLDN19_uc001chu.2_3'UTR|CLDN19_uc010ojv.1_3'UTR	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	217					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTTGGCGGAGGCGGGCA	0.552000														10			9		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171981	68171981	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:68171981C>T	uc010dfg.3	+	1	1202	c.801C>T	c.(799-801)atC>atT	p.I267I	KCNJ2_uc002jir.3_Silent_p.I267I|KCNJ2_uc021ucj.1_Silent_p.I267I	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	267					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGTCCCCAATCACTATAGTCC	0.403000														37			25		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089202	76089202	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:76089202C>T	uc002jud.2	+	15	4759	c.4159C>T	c.(4159-4161)Cca>Tca	p.P1387S	TNRC6C_uc002juf.2_Missense_Mutation_p.P1384S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1387	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACTGGCCCCCAGGTAAGAC	0.522000														22			8		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40257788	40257788	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:40257788C>T	uc003ayg.3	-	2	825	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	192										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTAACCTTCCAAACTTAGGA	0.333000														18			20		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100141834	100141834	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:100141834C>T	uc001pga.3	+	17	2679	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	CNTN5_uc001pfz.3_Silent_p.I725I|CNTN5_uc021qpb.1_Silent_p.I725I|CNTN5_uc021qpc.1_Silent_p.I651I|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	725	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCCAGAAATCATAACAGGGG	0.423000														35			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285527	238285527	+	Silent	SNP	G	A	A	rs145203676		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:238285527G>A	uc002vwl.2	-	6	3243	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	COL6A3_uc002vwo.2_Silent_p.I780I|COL6A3_uc010znj.1_Silent_p.I379I|COL6A3_uc002vwq.3_Silent_p.I780I|COL6A3_uc002vwr.3_Silent_p.I579I|COL6A3_uc010znk.1_Silent_p.I786I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	986	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGACAGCACGATCTGCTCTA	0.512000														96			70		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029944	32029944	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:32029944G>A	uc003nzl.2	-	19	7360	c.7158C>T	c.(7156-7158)atC>atT	p.I2386I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2448	Fibronectin type-III 16.				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						CTGTCACCCCGATGGCAGACA	0.627000														24			16		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949115	198949115	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:198949115G>A	uc010fsp.3	+	1	1272	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PLCL1_uc002uuv.4_Missense_Mutation_p.E213K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	292					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D292H(1)|p.F291C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAGCAAGGAAAAACTAAC	0.393000														49			34		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252982	37252982	+	Silent	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:37252982G>T	uc022abv.1	-	11	1622	c.912C>A	c.(910-912)ctC>ctA	p.L304L	ELMO1_uc011kbc.2_Silent_p.L208L|ELMO1_uc003tfk.2_Silent_p.L304L|ELMO1_uc010kxg.2_Silent_p.L304L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	304					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGTCTTCCAGGAGGTTAAAGG	0.502000														42			47		3.07002e-29	3.11653e-29	1	1	0
CAMK4	814	broad.mit.edu	37	5	110712584	110712584	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:110712584C>T	uc003kpf.3	+	3	565	c.330C>T	c.(328-330)acC>acT	p.T110T	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	110	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TATTTGAAACCCCTACAGAAA	0.343000														75			29		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287876	57287876	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:57287876C>T	uc002ixi.3	+	0	506	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	155					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTCCTCACCTCCATCTGTGAC	0.547000														23			10		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852266	15852266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:15852266C>T	uc010xoq.2	+	0	64	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGCCTTCCCCCAGCAGCTCCT	0.468000														134			100		0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099802	120099802	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:120099802T>G	uc001pxb.3	+	3	1014	c.773T>G	c.(772-774)gTg>gGg	p.V258G		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	258										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GACTTCTACGTGCCCCAGAGG	0.632000														44			31		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547765	98547765	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:98547765C>T	uc003upp.3	+	36	5402	c.5193C>T	c.(5191-5193)ttC>ttT	p.F1731F	TRRAP_uc011kis.2_Silent_p.F1713F|TRRAP_uc003upr.3_Silent_p.F1430F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1731					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATGACATTCTTAAAAGAGT	0.438000														39			27		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150909279	150909279	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:150909279C>T	uc004fey.1	+	4	612	c.388C>T	c.(388-390)Cta>Tta	p.L130L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527000														13			105		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114101	147114101	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:147114101C>T	uc011bno.2	-	2	562	c.376G>A	c.(376-378)Gag>Aag	p.E126K	ZIC4_uc003ewc.2_Missense_Mutation_p.E6K|ZIC4_uc021xff.1_Missense_Mutation_p.E114K|ZIC4_uc003ewd.2_Missense_Mutation_p.E76K|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	76						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGAAGGGCTCCGGCCGCGCG	0.716000														6			3		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223414	35223414	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:35223414G>A	uc001bxu.3	+	1	583	c.483G>A	c.(481-483)gtG>gtA	p.V161V	GJB5_uc021okz.1_Silent_p.V161V|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	161					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCCCTCCTGTGGTCAAGTGCC	0.507000														20			24		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239037360	239037360	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:239037360G>A	uc002vxq.4	+	7	1338	c.1228G>A	c.(1228-1230)Gcg>Acg	p.A410T	ESPNL_uc010fyw.3_Missense_Mutation_p.A106T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	410										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACAGAGACGGCGCTGGCGGG	0.697000														6			9		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844359	123844359	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:123844359C>T	uc001lfv.3	+	3	2704	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P782S|TACC2_uc010qtv.2_Missense_Mutation_p.P782S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	782						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCACATCCCCCCCAGGGGGA	0.632000														9			47		0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070213	141070213	+	Silent	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:141070213A>G	uc010ncq.3	+	3	1293	c.453A>G	c.(451-453)tcA>tcG	p.S151S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		AGGGCAGCTCAAAATCCAGGA	0.632000														2			2		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076098	101076098	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:101076098C>T	uc003yjb.1	-	7	1093	c.898G>A	c.(898-900)Gat>Aat	p.D300N	RGS22_uc003yja.1_Missense_Mutation_p.D119N|RGS22_uc003yjc.1_Missense_Mutation_p.D288N|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.D204N	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	300					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCATCAACATCCTGTTTCTTT	0.363000														21			14		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076928	92076928	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:92076928G>A	uc001xzs.1	-	20	2634	c.2494C>T	c.(2494-2496)Ctc>Ttc	p.L832F	CATSPERB_uc010aub.1_Missense_Mutation_p.L354F	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	832					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATAGATCTGAGATAACTACAG	0.398000														31			20		0	0	1	0	0
EMBP1	647121	broad.mit.edu	37	1	121307573	121307574	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:121307573_121307574GA>AT	uc009wht.1	+	1	300_301	c.271_272GA>AT	c.(271-273)gaa>ATa	p.E91I	EMBP1_uc001eiu.1_Non-coding_Transcript					Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		TGAGGGGAAAGAATTTGAGCAG	0.307000														21			12		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895144	39895144	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:39895144G>A	uc003opb.3	-	0	312	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MOCS1_uc003opa.3_Silent_p.S58S|MOCS1_uc003opd.3_Silent_p.S58S|MOCS1_uc003ope.3_Intron	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	58	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGAGGAAGGCGGAGAAGGGGG	0.652000														25			8		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174108	149174108	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:149174108G>A	uc010lpi.2	-	5	1014	c.743C>T	c.(742-744)cCg>cTg	p.P248L	ZNF746_uc003wfw.2_Missense_Mutation_p.P248L	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	248					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)			GGAGGTGGGCGGGATGGTGGT	0.617000														30			20		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67272111	67272111	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67272111G>A	uc002esl.3	-	4	653	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	181	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGACCTCTAAGGATGTAGCTC	0.612000														4			26		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42454056	42454056	+	Silent	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:42454056T>C	uc003gwr.2	-	29	3070	c.2838A>G	c.(2836-2838)ttA>ttG	p.L946L	ATP8A1_uc003gwq.2_Silent_p.L172L|ATP8A1_uc003gws.2_Silent_p.L931L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	946					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAGGCCATTTAAACAATGAA	0.373000														15			10		0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663408	86663408	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:86663408G>A	uc001pce.3	-	1	703	c.390C>T	c.(388-390)ccC>ccT	p.P130P	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	130	FZ.				Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity	p.P130P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTCAGGACGGGTTCACAGC	0.517000														61			63		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164992	26164992	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:26164992G>A	uc003abz.1	+	3	1359	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	MYO18B_uc003aca.1_Missense_Mutation_p.R251K|MYO18B_uc010guy.1_Missense_Mutation_p.R251K|MYO18B_uc010guz.1_Missense_Mutation_p.R251K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	370						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACGATCTGAGAATGGGGGAG	0.562000														13			5		0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653669	6653669	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:6653669G>A	uc001aoa.3	-	3	1602	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F	KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.3_Missense_Mutation_p.S150F	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA.	517					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTATCCCCCAGAGACGTACAG	0.622000														27			22		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170253	166170253	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166170253G>A	uc002udc.3	+	8	1448	c.1158G>A	c.(1156-1158)tgG>tgA	p.W386*	SCN2A_uc002udd.3_Nonsense_Mutation_p.W386*|SCN2A_uc002ude.3_Nonsense_Mutation_p.W386*	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	386					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGACTTCTGGGAAAACCTTT	0.383000														21			18		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563240	32563240	+	Missense_Mutation	SNP	G	A	A	rs142991621		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:32563240G>A	uc001wrl.3	+	1	3604	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	ARHGAP5_uc001wrm.3_Missense_Mutation_p.R1122Q|ARHGAP5_uc001wrn.3_Missense_Mutation_p.R1122Q|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	1122					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAATTCGAAACTCATTT	0.353000														20			14		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451211	156451211	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:156451211A>C	uc003wmo.3	+	6	861	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.K211Q|RNF32_uc003wmq.3_Missense_Mutation_p.K211Q|RNF32_uc003wmr.3_Missense_Mutation_p.K211Q|RNF32_uc003wms.3_Missense_Mutation_p.K211Q|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.K211Q	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	211	IQ.					aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAACCTGAGGAAAACAGTACC	0.373000														40			28		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472947	53472947	+	RNA	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:53472947A>G	uc002qan.4	-	3		c.1554T>C								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TTACACTTGTAAGGTTTCTCT	0.338000														24			10		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881793	38881793	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:38881793G>A	uc003jln.2	+	3	747	c.345G>A	c.(343-345)aaG>aaA	p.K115K	OSMR_uc003jlm.2_Silent_p.K115K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	115					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.I114L(1)		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)					TAAGAATAAAGAGTTTGGTGG	0.488000														34			26		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169509824	169509824	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:169509824G>A	uc003maf.3	+	51	5535	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G1311S|DOCK2_uc003mah.3_Missense_Mutation_p.G375S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1819					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGAAGAAGGCAAACAGAT	0.517000														58			32		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752497	19752497	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:19752497G>T	uc009zzj.3	-	2	369	c.264C>A	c.(262-264)caC>caA	p.H88Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	88					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCTGCTCTGGGTGGAAGAGCT	0.512000														80			3		1	1	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166201121	166201121	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166201121C>T	uc002udc.3	+	15	2909	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	SCN2A_uc002udd.3_Silent_p.I873I|SCN2A_uc002ude.3_Silent_p.I873I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	873					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAATTAAGATCATTGGCAATT	0.423000														31			38		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515583	51515583	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:51515583G>A	uc010ric.2	+	0	302	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGTCTTTGGAGAACATTTC	0.463000														69			40		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755267	123755267	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:123755267C>T	uc001pzi.3	-	1	466	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	86						integral to membrane		p.M86I(4)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AGGTGAATTTCATACCCAGGA	0.413000														39			22		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71524350	71524350	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:71524350C>T	uc001xmo.2	+	25	5207	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	PCNX_uc010are.1_Silent_p.I1476I|PCNX_uc010arf.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1587						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTGTTTCATCCTTGCCTCTG	0.453000														248			213		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468264	44468264	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:44468264G>A	uc001cll.3	-	6	1189	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	SLC6A9_uc009vxe.2_Missense_Mutation_p.R189C|SLC6A9_uc010okm.1_Missense_Mutation_p.R260C|SLC6A9_uc001clm.3_Missense_Mutation_p.R279C|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.R264C|SLC6A9_uc010oko.2_Missense_Mutation_p.R149C|SLC6A9_uc001cln.3_Missense_Mutation_p.R260C|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	333						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCACTCCGCGGACAAACAGA	0.602000														72			33		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905982	5905982	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:5905982A>T	uc010qzs.2	+	0	460	c.460A>T	c.(460-462)Aat>Tat	p.N154Y	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGGAAGAAATTTAGTTCT	0.468000														51			47		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628230	134628230	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:134628230G>A	uc021qbc.1	-	51	7310	c.7209C>T	c.(7207-7209)atC>atT	p.I2403I		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	564										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGTCAGGGGGGATGGTCCGGG	0.647000														0			8		0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45253724	45253724	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:45253724T>C	uc001zuk.3	+	3	304	c.290T>C	c.(289-291)aTa>aCa	p.I97T		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	97								p.I97V(1)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ACCACAGAAATAAGAAGAAAA	0.299000														15			12		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118688722	118688722	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:118688722T>C	uc002tlj.3	-	22	1901	c.1733A>G	c.(1732-1734)gAa>gGa	p.E578G		NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	578										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTTTTCTTTTCCATCTGTTG	0.408000														52			37		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179537668	179537668	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:179537668T>C	uc003fki.1	-	8	1049	c.919A>G	c.(919-921)Acc>Gcc	p.T307A	PEX5L_uc011bqd.1_Missense_Mutation_p.T264A|PEX5L_uc011bqe.1_Missense_Mutation_p.T115A|PEX5L_uc011bqf.1_Missense_Mutation_p.T199A|PEX5L_uc003fkj.1_Missense_Mutation_p.T272A|PEX5L_uc010hxd.1_Missense_Mutation_p.T305A|PEX5L_uc011bqg.1_Missense_Mutation_p.T283A|PEX5L_uc011bqh.1_Missense_Mutation_p.T248A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	307					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCGAGATGGTTACTTGGTTC	0.413000														48			41		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755513	79755513	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:79755513C>T	uc002bew.1	+	2	2478	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S	KIAA1024_uc010unk.1_Silent_p.S801S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	801						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCCTGCCTCCCTCAAGGCCC	0.607000														61			50		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306272	4306272	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:4306272A>C	uc002lzy.2	+	2	342	c.189A>C	c.(187-189)gaA>gaC	p.E63D	FSD1_uc010xie.2_Missense_Mutation_p.E50D|FSD1_uc010xif.2_Silent_p.R47R	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	63					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGAAAGAAGGCATGCTTA	0.592000														59			44		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002435	98002435	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98002435C>T	uc003dsj.1	+	0	704	c.704C>T	c.(703-705)tCt>tTt	p.S235F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAAAAGAAGTCTGTTAGAGGC	0.388000														19			12		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116859158	116859158	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:116859158C>T	uc003vin.3	+	13	1640	c.1426C>T	c.(1426-1428)Ccc>Tcc	p.P476S	ST7_uc011knl.2_Missense_Mutation_p.P453S|ST7_uc003vio.3_Missense_Mutation_p.P453S|ST7_uc003viq.3_Missense_Mutation_p.P430S|ST7_uc011knm.2_Missense_Mutation_p.P433S|ST7_uc003vir.3_Missense_Mutation_p.P396S	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	476						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GATCCCTTATCCCTTGGAAAA	0.443000														91			61		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099087	169099087	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:169099087G>A	uc011bpj.1	-	1	666	c.263C>T	c.(262-264)cCt>cTt	p.P88L	MECOM_uc003ffl.2_Missense_Mutation_p.P60L|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.P88L|MECOM_uc011bpl.1_Missense_Mutation_p.P88L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	88							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGCCCCAGGCATATTTGA	0.483000														78			45		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801363	196801363	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:196801363C>T	uc002utj.4	-	19	3333	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGAAGTTCATCATTGGAC	0.299000														12			8		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278814	117278814	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:117278814G>A	uc001lcg.3	+	24	4082	c.3696G>A	c.(3694-3696)caG>caA	p.Q1232Q	ATRNL1_uc010qsm.2_Silent_p.Q361Q|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1232						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTTGTGCAGTTTTTTGTCA	0.328000														4			7		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364058	22364058	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:22364058G>A	uc002nqs.1	-	2	779	c.461C>T	c.(460-462)tCa>tTa	p.S154L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGATAGGTGTGAAAGCATGCA	0.323000														26			20		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70989934	70989934	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:70989934C>T	uc001swb.4	-	2	529	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	PTPRB_uc010sto.2_Missense_Mutation_p.E167K|PTPRB_uc010stp.2_Missense_Mutation_p.E167K|PTPRB_uc001swc.4_Missense_Mutation_p.E385K|PTPRB_uc001swa.4_Missense_Mutation_p.E385K|PTPRB_uc001swd.4_Missense_Mutation_p.E384K|PTPRB_uc009zrr.2_Missense_Mutation_p.E264K|PTPRB_uc001swe.3_Missense_Mutation_p.E385K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	167	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGTATTCATTCCATGAA	0.358000														21			12		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063249	69063249	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:69063249G>A	uc001oov.3	+	2	782	c.332G>A	c.(331-333)gGa>gAa	p.G111E	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.G111E|MYEOV_uc001oow.3_Missense_Mutation_p.G53E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	111										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AGAAACAAGGGAGACAAGGGT	0.632000														42			40		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158644451G>T	uc001fst.1	-	8	1326	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	376					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAGTCAGATGAAAATCGATG	0.453000														77			92		2.3733e-33	2.41292e-33	1	1	0
SGK223	157285	broad.mit.edu	37	8	8234635	8234635	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:8234635C>T	uc003wsh.4	-	1	1284	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	428							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTATCTTGGCCTGTGACTTGG	0.637000														44			27		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33074171	33074171	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:33074171G>A	uc002ypd.2	-	5	944	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SCAF4_uc002ype.2_Missense_Mutation_p.S173F|SCAF4_uc010glu.2_Missense_Mutation_p.S158F|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.S173F	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	173						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCTGGGACGGAGTTTGGAGT	0.463000														33			21		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811847	100811847	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:100811847C>T	uc010svi.2	+	10	1651	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	SLC17A8_uc009ztx.3_Silent_p.A396A	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	446					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CACGCTATGCCAGCATTCTCA	0.478000														80			52		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256635	140256635	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140256635G>A	uc003lic.2	+	0	1705	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	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_uc011daf.2_Silent_p.E526E	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	540	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)			TAGACCACGAGGAGCTGGAGC	0.697000														108			81		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256724	240256724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:240256724C>T	uc010pye.2	+	0	1540	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	FMN2_uc010pyd.2_Nonsense_Mutation_p.Q439*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	439					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCCCCTAATCAGAGCCCCAG	0.662000														68			75		0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76140168	76140168	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:76140168G>A	uc003ufq.3	+	0	424	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	UPK3B_uc003ufo.3_Intron|UPK3B_uc010ldk.1_Intron	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	Homo sapiens uroplakin 3B (UPK3B), transcript variant 1, mRNA.	67					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCAGCCCCAGGGACCCCCAC	0.677000														7			6		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825555	4825555	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:4825555C>T	uc021qcs.1	-	0	56	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTGGGATTCCAAGCAGGAT	0.502000														23			28		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34081376	34081376	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:34081376G>A	uc021wco.1	+	22	3657	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	CEP250_uc010zve.2_Missense_Mutation_p.D372N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1004	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTGCTGCAGGATAAGATGGA	0.612000														14			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832104	61832104	+	Silent	SNP	T	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:61832104T>G	uc001jky.3	-	36	8873	c.8535A>C	c.(8533-8535)ggA>ggC	p.G2845G	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.	2845					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						TGTCCCATGGTCCCCTAGTTG	0.408000														9			32		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622449	41622449	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:41622449C>T	uc002opu.1	+	2	317	c.261C>T	c.(259-261)gcC>gcT	p.A87A	CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Silent_p.A87A|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	87					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGAAGGAGGCCCTGGTGGACC	0.592000														44			22		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400083	400083	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:400083C>T	uc021qbk.1	+	6	1464	c.1435C>T	c.(1435-1437)Ctc>Ttc	p.L479F	PKP3_uc001lpc.3_Missense_Mutation_p.L464F	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	464					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCCCCCCCTCATCCAGCA	0.677000														5			7		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62539252	62539252	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:62539252C>T	uc002ajj.1	-	4	428	c.420G>A	c.(418-420)acG>acA	p.T140T	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ575559_uc010uhp.1_5'Flank|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		CAGCCAAGATCGTCTCCAGCT	0.607000														36			25		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114648	57114648	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:57114648G>A	uc001nju.3	+	2	498	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	105					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGATGCAAGGATTCTGCCCA	0.517000														29			20		0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38025047	38025047	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:38025047G>A	uc001cbj.3	+	2	423	c.413G>A	c.(412-414)aGg>aAg	p.R138K	DNALI1_uc010oie.2_Intron	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	116					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCAGGCCAGGGAAACAGGC	0.592000														23			13		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642870	129642870	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:129642870C>T	uc022bnn.1	+	0	1180	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y	ZBTB34_uc004bqm.4_Missense_Mutation_p.H394Y	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CATGCGACTCCATATGGGAAT	0.493000														6			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107095315	107095315	+	RNA	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:107095315C>T	uc021ser.1	-	113		c.5099G>A								Parts of antibodies, mostly variable regions.																		GGATCCAGCTCCAGTAGTAAC	0.592000														3			43		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358218	57358218	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:57358218G>A	uc004dvc.3	+	3	749	c.600G>A	c.(598-600)caG>caA	p.Q200Q		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	200						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATTTACAGCATATTGTAG	0.358000										HNSCC(52;0.14)				10			75		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	C	C	rs12117644		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:152128617T>C	uc001ezs.1	-	2	1023	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507000														846			15		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798376	7798376	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:7798376C>T	uc001aoi.3	+	15	4223	c.4016C>T	c.(4015-4017)cCg>cTg	p.P1339L	CAMTA1_uc010nzv.1_Missense_Mutation_p.P426L|CAMTA1_uc001aok.4_Missense_Mutation_p.P382L|CAMTA1_uc001aoj.3_Missense_Mutation_p.P295L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTGGAAATCCGAAGGGGACC	0.498000			T	WWTR1	epitheliod hemangioendothelioma									49			26		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095589	111095589	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:111095589C>T	uc004epl.1	-	4	2233	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	TRPC5_uc004epm.1_Missense_Mutation_p.M438I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	438					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGCAAAATCCATCAGGTTCC	0.423000														8			55		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672889	113672889	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:113672889C>T	uc003eau.3	+	2	803	c.504C>T	c.(502-504)ccC>ccT	p.P168P	ZDHHC23_uc003eav.3_Silent_p.P162P	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	168						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTGTGGGTCCCGTTCAGCTGG	0.527000														70			69		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430707	37430707	+	Silent	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:37430707A>G	uc021ppc.1	+	6	813	c.714A>G	c.(712-714)acA>acG	p.T238T	ANKRD30A_uc001iza.1_Silent_p.T238T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	294						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACAGCTGAAAGCT	0.483000														32			3		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882577	42882577	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:42882577G>A	uc002ihj.3	-	1	1120	c.609C>T	c.(607-609)gtC>gtT	p.V203V	GJC1_uc002ihk.3_Silent_p.V203V|GJC1_uc002ihl.3_Silent_p.V203V|GJC1_uc021tyf.1_Silent_p.V203V	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	203					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAAACGGGTGGACTTGGAAGC	0.438000														59			56		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685000	248685000	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:248685000C>T	uc001ien.1	+	0	53	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGGGATTTTCAGATCAGCCT	0.428000														78			84		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744092	135744092	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135744092G>A	uc002tue.1	-	6	2381	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.H671Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.H512Y|YSK4_uc002tui.4_Missense_Mutation_p.H801Y	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	784							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)		TTCATGGGATGAATTTCATCT	0.393000														37			27		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131014771	131014771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:131014771G>A	uc003kvs.1	-	11	1442	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R406C|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R389C|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R434C	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.R434C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCATGAAACGATAGCAAAGG	0.348000														15			14		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19559070	19559070	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:19559070G>A	uc001vuz.1	+	2	768	c.716G>A	c.(715-717)gGa>gAa	p.G239E	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	239										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GATGAGTATGGAAATACCGCT	0.403000														108			41		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190165	5190165	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:5190165G>A	uc003jdl.3	+	6	1267	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G377R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G377R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	377	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAAAGATGGGACTCGTCA	0.517000														67			52		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712177	121712177	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:121712177G>A	uc001tzv.3	-	1	982	c.153C>T	c.(151-153)tcC>tcT	p.S51S	CAMKK2_uc001tzt.3_Silent_p.S51S|CAMKK2_uc001tzu.3_Silent_p.S51S|CAMKK2_uc001tzw.3_Silent_p.S51S|CAMKK2_uc001tzx.3_Silent_p.S51S|CAMKK2_uc001tzy.3_Silent_p.S51S|CAMKK2_uc001uaa.1_Silent_p.S51S|CAMKK2_uc001uab.3_Silent_p.S51S|CAMKK2_uc001uac.3_Silent_p.S51S|CAMKK2_uc001uad.2_Silent_p.S51S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	51					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACAATGAAGGACTCCATGC	0.667000														19			24		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000328	41000328	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41000328C>T	uc003jmj.4	-	38	4966	c.4476G>A	c.(4474-4476)gtG>gtA	p.V1492V	HEATR7B2_uc003jmi.4_Silent_p.V1047V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1492							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						TCACCAGTTTCACACAGAATT	0.498000														38			40		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126222860	126222860	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:126222860C>T	uc010hsi.2	-	8	934	c.880G>A	c.(880-882)Gac>Aac	p.D294N	UROC1_uc003eiz.2_Missense_Mutation_p.D294N	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	294					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ATGCAGCGGTCCAAGCTGTCA	0.607000														58			46		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937126	40937126	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:40937126G>A	uc002ibj.3	+	4	1250	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	WNK4_uc010wgx.2_Intron|WNK4_uc002ibk.1_Silent_p.P166P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	394	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAGAAAGCCGAACAGCTTCC	0.592000														15			8		0	0	1	0	0
AK309896	0	broad.mit.edu	37	9	66513883	66513883	+	RNA	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:66513883C>T	uc010mnh.1	-	5		c.865G>A								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		GACGTCTGCTCTTGGAGCACA	0.498000														78			14		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421551	150421551	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:150421551C>T	uc003eyg.3	-	0	192	c.135G>A	c.(133-135)gaG>gaA	p.E45E	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	45	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ccacctcttcctcctcctcct	0.607000														7			9		0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50587148	50587148	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:50587148C>T	uc001vdp.1	+	3	1499	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Silent_p.L358L|TRIM13_uc001vdr.1_Silent_p.L358L|TRIM13_uc001vds.1_Silent_p.L358L|TRIM13_uc021rjq.1_Silent_p.L358L	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	358					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGTTCCTATCTGACTAAAAC	0.373000														41			36		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649599	142649599	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142649599G>A	uc003wcb.3	-	9	1410	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	400					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P399S(1)|p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCTCACCATGGGTGGTTGCT	0.557000														44			45		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821640	45821640	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:45821640C>T	uc010gpt.1	+	15	2498	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y	TRPM2_uc002zet.1_Missense_Mutation_p.H800Y|TRPM2_uc002zeu.1_Missense_Mutation_p.H800Y|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.H800Y|TRPM2_uc002zex.1_Missense_Mutation_p.H586Y|TRPM2_uc002zey.1_Missense_Mutation_p.H313Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	800						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGTGGTCTTCCACCTGAACAT	0.642000														154			124		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91655311	91655311	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:91655311C>T	uc001xyw.2	+	8	1344	c.992C>T	c.(991-993)tCg>tTg	p.S331L	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.S331L|C14orf159_uc001xyz.2_Missense_Mutation_p.S202L|C14orf159_uc001xzb.2_Missense_Mutation_p.S326L|C14orf159_uc001xyx.2_Missense_Mutation_p.S314L|C14orf159_uc001xzc.2_Missense_Mutation_p.S326L|C14orf159_uc001xza.2_Missense_Mutation_p.S331L|C14orf159_uc001xyv.2_Missense_Mutation_p.S331L|C14orf159_uc001xze.2_Missense_Mutation_p.S326L	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	326						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCCTCTCTCTCGCTGTCCCAT	0.493000														25			28		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379235	32379235	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:32379235C>T	uc002wzy.3	+	14	2497	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	ZNF341_uc002wzx.3_Missense_Mutation_p.S819F|ZNF341_uc010geq.3_Missense_Mutation_p.S736F|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.S253F	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGGCTGGGCTCCAACCTGGCT	0.682000														26			19		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370810	76370810	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:76370810G>A	uc001oxq.4	-	2	2070	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	LRRC32_uc001oxr.4_Silent_p.S609S|LRRC32_uc010rsf.2_Silent_p.S595S	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	609	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGTGGCTCAGGGACACCTCCT	0.617000														44			39		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886136	88886136	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:88886136C>T	uc003ydz.3	-	0	161	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	22										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCATTGAGTCCCACTCTGACT	0.522000														47			27		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601678	138601678	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:138601678G>A	uc011kql.2	-	1	2743	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	KIAA1549_uc011kqj.2_Silent_p.S898S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	898						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCATCAGGGTGGAGTCGAGGG	0.632000			O	BRAF	pilocytic astrocytoma									17			13		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513431	14513431	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:14513431C>T	uc002myl.3	+	11	1586	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CD97_uc002mym.3_Silent_p.L353L|CD97_uc002myn.3_Silent_p.L309L	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	402					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGCATCCTCTCCATCCAGA	0.577000														76			56		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821823	35821823	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:35821823C>T	uc021wit.1	-	0	110	c.110G>A	c.(109-111)aGc>aAc	p.S37N	KCNE1_uc010gmp.3_Missense_Mutation_p.S37N|KCNE1_uc002ytz.3_Missense_Mutation_p.S37N|KCNE1_uc010gmq.3_Missense_Mutation_p.S37N|KCNE1_uc010gmr.3_Missense_Mutation_p.S37N|KCNE1_uc010gms.3_Missense_Mutation_p.S37N|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	37					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GCCGTCACTGCTGCGGGGGGA	0.607000														35			30		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242860	98242860	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:98242860G>A	uc004avk.4	-	5	945	c.757C>T	c.(757-759)Cct>Tct	p.P253S	PTCH1_uc010mro.3_Missense_Mutation_p.P102S|PTCH1_uc010mrp.3_Missense_Mutation_p.P102S|PTCH1_uc010mrq.3_Missense_Mutation_p.P102S|PTCH1_uc004avl.4_Missense_Mutation_p.P102S|PTCH1_uc004avm.4_Missense_Mutation_p.P252S|PTCH1_uc010mrr.3_Missense_Mutation_p.P187S|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_Non-coding_Transcript|PTCH1_uc010mru.1_Non-coding_Transcript	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	253					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P253L(1)|p.P252S(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACCGCAAAGGAGGTTTACCT	0.453000														3			35		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5578067	5578067	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:5578067G>A	uc003gij.3	-	17	3226	c.3172C>T	c.(3172-3174)Ctg>Ttg	p.L1058L	EVC2_uc003gik.3_Silent_p.L978L|EVC2_uc011bwb.2_Silent_p.L498L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1058						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGTTCGTTCAGAATCCCGGGC	0.622000														31			23		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264711	42264711	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:42264711C>T	uc003cky.3	+	15	2560	c.2344C>T	c.(2344-2346)Ccg>Tcg	p.P782S	TRAK1_uc011azi.2_Missense_Mutation_p.P761S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	782					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						CCCCTCTACTCCGCCGAACTC	0.622000														39			19		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158058232	158058232	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158058232G>A	uc001frn.4	+	7	1436	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	KIRREL_uc010pib.2_Silent_p.K244K|KIRREL_uc009wsq.3_Silent_p.K180K|KIRREL_uc001fro.4_Silent_p.K142K	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	344	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGACCAAAAAGGACTCAAATA	0.468000														72			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864539	13864539	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13864539C>T	uc003jfd.2	-	27	4605	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1521	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTGCCTCCATGATAT	0.408000									Kartagener syndrome					23			18		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634231	84634231	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:84634231G>A	uc004eer.2	-	1	375	c.229C>T	c.(229-231)Cct>Tct	p.P77S	POF1B_uc004ees.3_Missense_Mutation_p.P77S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	77							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						GTTTTGAGAGGGGAGAGCACT	0.493000														3			11		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853233	35853233	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:35853233G>A	uc003zyo.3	+	11	2350	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	TMEM8B_uc003zym.3_Silent_p.L354L	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	354					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTTCGCCCTGGGGATCTTGG	0.607000														13			56		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382301	10382301	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10382301A>T	uc003bvt.3	-	19	3444	c.3005T>A	c.(3004-3006)tTc>tAc	p.F1002Y	ATP2B2_uc003bvv.3_Missense_Mutation_p.F957Y|ATP2B2_uc003bvw.3_Missense_Mutation_p.F957Y|ATP2B2_uc010hdo.3_Missense_Mutation_p.F707Y	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1002					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATCATGACGAAGGTGTTGAA	0.552000														90			76		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270128	129270128	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:129270128G>A	uc004evg.3	-	11	1428	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	AIFM1_uc011mur.2_Silent_p.G47G|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Silent_p.G395G|AIFM1_uc004evi.3_Silent_p.G112G|AIFM1_uc004evk.3_Silent_p.G47G	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	399	FAD-dependent oxidoreductase (By similarity).				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGGCTCCAGGCCCACAGCTG	0.468000														1			29		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53608038	53608038	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:53608038G>A	uc021onn.1	-	0	252	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC1A7_uc021onm.1_Silent_p.I28I|SLC1A7_uc001cuy.3_Silent_p.I28I|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Silent_p.I28I	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	28						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGCAGCCCACGATGACAGACA	0.652000														5			4		0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282871	105282871	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:105282871G>A	uc001tla.3	-	3	987	c.820C>T	c.(820-822)Cat>Tat	p.H274Y		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	274						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGTATGGAATGATCAAGGTAA	0.393000														38			37		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003415	75003415	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:75003415C>T	uc004ecj.2	-	0	1665	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	491	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCTGTGGTCGCTTTCTGTA	0.478000														2			22		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190167	5190167	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:5190167G>A	uc003jdl.3	+	6	1269	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	ADAMTS16_uc003jdk.1_Silent_p.G377G|ADAMTS16_uc003jdj.1_Silent_p.G377G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	377	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAAGATGGGACTCGTCATG	0.517000														68			53		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516529	1516529	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:1516529G>A	uc003skn.2	-	35	5065	c.4964C>T	c.(4963-4965)tCg>tTg	p.S1655L		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1655					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGACGGAACGAGGGCACCTG	0.637000														14			10		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93077030	93077030	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:93077030C>T	uc003kkl.1	-	0	280	c.240G>A	c.(238-240)agG>agA	p.R80R	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CAAGACGGGGCCTGCAGGGTG	0.682000														7			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2778187	2778187	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:2778187G>C	uc009zdu.1	+	39	5169	c.4856G>C	c.(4855-4857)aGg>aCg	p.R1619T	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qke.2_Missense_Mutation_p.R1560T|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1560T|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1593T|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1558T|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1560T|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1619T|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1560T|CACNA1C_uc001qko.2_Missense_Mutation_p.R1591T|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1599T|CACNA1C_uc001qku.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1588T|CACNA1C_uc001qks.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1571T|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1568T|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1571T|CACNA1C_uc001qki.1_Missense_Mutation_p.R1307T|CACNA1C_uc010sea.1_Missense_Mutation_p.R262T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1619					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)	ACGGCCCTGAGGATCAAAACA	0.577000														77			53		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882591	68882591	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:68882591G>T	uc010yqj.2	+	1	1225	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	355						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTCAAAAAGATCATGTTGC	0.512000														34			28		1.2476e-16	1.25887e-16	1	1	0
TGFA	7039	broad.mit.edu	37	2	70683516	70683516	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:70683516G>A	uc002sgs.4	-	3	568	c.320C>T	c.(319-321)tCc>tTc	p.S107F	TGFA_uc010fdq.3_Missense_Mutation_p.S113F|TGFA_uc010fdr.3_Missense_Mutation_p.S112F|TGFA_uc002sgt.4_Missense_Mutation_p.S106F|TGFA_uc002sgu.3_Missense_Mutation_p.S106F|TGFA_uc002sgv.3_Missense_Mutation_p.S107F|TGFA_uc002sgw.3_Missense_Mutation_p.S106F	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	107					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCACGATGGAGACCACCAC	0.612000														4			3		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665771	64665771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64665771G>A	uc001obx.3	-	32	4850	c.4735C>T	c.(4735-4737)Cgc>Tgc	p.R1579C	ATG2A_uc001obw.3_Missense_Mutation_p.R344C	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1579							protein binding	p.R1579R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCGAGACGCGGAGACAGCAC	0.632000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		11			14		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52374640	52374640	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:52374640G>A	uc003joy.3	+	23	3007	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G879E|ITGA2_uc011cqd.2_Intron|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	955					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCGGATGGGAATGTTCCT	0.363000														28			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400457	10400457	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:10400457C>T	uc002gmo.3	-	32	4679	c.4585G>A	c.(4585-4587)Gaa>Aaa	p.E1529K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1529						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.H1528N(1)		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						TTTTCCAGTTCATGGATGCGC	0.373000														16			11		0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286458	18286458	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:18286458G>A	uc002gte.3	+	6	886	c.631G>A	c.(631-633)Gac>Aac	p.D211N		NM_001145127	NP_001138599	A8MZ36	EVPLL_HUMAN	Homo sapiens envoplakin-like (EVPLL), mRNA.	211										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGACTGGAGCGACCTCATGGC	0.721000														5			3		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564010	1564010	+	Silent	SNP	C	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:1564010C>A	uc002fte.3	-	28	4734	c.4620G>T	c.(4618-4620)ccG>ccT	p.P1540P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1540						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATTAATGGTCGGGGACCACC	0.498000														45			37		6.2361e-21	6.32101e-21	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073364	134073364	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:134073364G>A	uc003iha.3	+	0	2895	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	PCDH10_uc003igz.3_Missense_Mutation_p.G690E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	690	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G690V(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggcgggggcgggagcggaggc	0.706000														23			17		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230698	56230698	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56230698G>A	uc010rjj.2	-	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GATGACTCAGGAAAAAGTACA	0.423000														26			21		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25272586	25272586	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:25272586C>T	uc003abg.2	+	13	1656	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	SGSM1_uc010guu.1_Missense_Mutation_p.S445F|SGSM1_uc003abh.2_Missense_Mutation_p.S500F|SGSM1_uc003abj.2_Missense_Mutation_p.S445F|SGSM1_uc003abi.1_Missense_Mutation_p.S420F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	500						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AACCTCCCATCCCTGTGGCAG	0.557000														88			82		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292755	62292755	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:62292755C>T	uc021wge.1	+	1	377	c.207C>T	c.(205-207)gcC>gcT	p.A69A	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.A69A|RTEL1_uc011abd.2_Silent_p.A69A|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Silent_p.A69A|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	69	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCATCTCTGCCCGCAAGATTG	0.632000														43			27		0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118944615	118944615	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:118944615C>T	uc010ryx.2	+	7	1228	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	VPS11_uc010ryy.2_Missense_Mutation_p.L244F	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	398					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TGGAGACCATCTCTACAGCAA	0.507000														30			22		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576300	110576300	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:110576300C>T	uc004epd.3	-	3	1202	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	DCX_uc011msv.2_Missense_Mutation_p.D344N|DCX_uc004epe.3_Missense_Mutation_p.D263N|DCX_uc004epf.3_Missense_Mutation_p.D263N|DCX_uc004epg.3_Missense_Mutation_p.D263N	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	344	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGAGAAAAATCATCCTGAGCA	0.398000														1			4		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670660	110670660	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:110670660G>T	uc011cft.2	-	9	1271	c.1063C>A	c.(1063-1065)Caa>Aaa	p.Q355K	CFI_uc003hzq.3_Missense_Mutation_p.Q144K|CFI_uc003hzr.4_Missense_Mutation_p.Q347K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	347	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTACCAGTTGTGCTCGCTTT	0.413000														47			39		6.23363e-37	6.34732e-37	1	1	0
DDX24	57062	broad.mit.edu	37	14	94517719	94517719	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:94517719G>A	uc001ycj.3	-	8	2497	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	DDX24_uc010twq.2_Silent_p.L757L|DDX24_uc010twr.2_Silent_p.L550L	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	800					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCGTAAACAGTGGCTGGGAC	0.532000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			48		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745418	25745418	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:25745418G>A	uc003xes.2	-	8	1087	c.822C>T	c.(820-822)atC>atT	p.I274I	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGTCCCCGATGATGATGA	0.498000														54			36		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943102	12943102	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12943102G>A	uc001aun.2	-	1	185	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		ACAGTGGGGGGAAAAGTTCTG	0.627000														71			50		0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50057673	50057673	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:50057673A>T	uc001vcz.3	+	10	2398	c.1492A>T	c.(1492-1494)Att>Ttt	p.I498F	SETDB2_uc010adh.2_Missense_Mutation_p.I486F|SETDB2_uc001vda.3_Missense_Mutation_p.I486F|SETDB2_uc021rjn.1_Missense_Mutation_p.I415F	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	498	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAAGACAGCCATTTTTCAACA	0.244000														12			6		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283485	159283485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159283485G>A	uc010piu.2	-	0	965	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAACGCAAAGGAAAAGCCTTC	0.388000														27			31		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527083	23527083	+	Missense_Mutation	SNP	G	C	C	rs112192848		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:23527083G>C	uc003jgo.3	+	10	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	629					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						CACCAGAGGAGACACACAGGG	0.612000										HNSCC(3;0.000094)				86			5		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641932	99641932	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:99641932G>A	uc001yga.3	-	3	1508	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	BCL11B_uc001ygb.3_Missense_Mutation_p.P343L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	414						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTGCCGCCAGGGGGCATGGG	0.701000			T	TLX3	T-ALL									3			7		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:186276981A>G	uc001gru.4	+	6	2181	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K669K|PRG4_uc009wyl.3_Silent_p.K617K|PRG4_uc009wym.3_Silent_p.K576K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	710	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						CTACCCCTAAAGGGACTGCTC	0.582000														187			6		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51412513	51412513	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:51412513G>A	uc002pua.1	-	1	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F	KLK4_uc002pty.1_Silent_p.F24F|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	73	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCACTTCTGGAAACAGTGTG	0.632000														110			88		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135946961	135946961	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:135946961C>T	uc010naa.1	+	10	2097	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	691	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGCGCCCCCCCCGTGCCGCCC	0.836000														0			2		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377358	8377358	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:8377358C>T	uc001qui.2	-	3	630	c.71G>A	c.(70-72)cGg>cAg	p.R24Q	FAM90A1_uc001quh.2_Missense_Mutation_p.R24Q	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	24							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGGCCCTCCGCTGCTTCTG	0.627000														9			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154034	41154034	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41154034C>T	uc003jmk.2	-	14	2378	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	C6_uc003jml.1_Missense_Mutation_p.R723K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	723	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCACCAATTCTATACAATCT	0.463000														36			33		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594839	55594840	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:55594839_55594840GG>AA	uc002qis.4	+	12	1412_1413	c.1308_1309GG>AA	c.(1306-1311)tgggag>tgAAag	p.436_437WE>*K	EPS8L1_uc010ess.1_Nonsense_Mutation_p.418_419WE>*K|EPS8L1_uc010est.1_Nonsense_Mutation_p.436_437WE>*K|EPS8L1_uc010yfr.2_Nonsense_Mutation_p.372_373WE>*K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Nonsense_Mutation_p.309_310WE>*K|EPS8L1_uc002qiv.3_Nonsense_Mutation_p.82_83WE>*K|EPS8L1_uc002qiw.3_Nonsense_Mutation_p.183_184WE>*K	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	436						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCGCGCCTGGGAGGACCCAGT	0.713000														13			5		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12907852C>T	uc010obf.2	-	1	517	c.291G>A	c.(289-291)gtG>gtA	p.V97V	LOC649330_uc009vno.2_Silent_p.V97V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	97							nucleic acid binding|nucleotide binding										CTGATCGTTTCACACCTGCGT	0.493000														126			15		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663438	102663438	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:102663438C>T	uc001phi.2	-	6	1074	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E245K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	311	Hemopexin-like 1.				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)		AGCTCAACTTCCGGGTAGAAG	0.418000														52			42		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135738568	135738568	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135738568G>A	uc002tue.1	-	8	3774	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L	YSK4_uc002tuf.1_Missense_Mutation_p.S430L|YSK4_uc010fnc.1_Missense_Mutation_p.S382L|YSK4_uc010fnd.1_Missense_Mutation_p.S1135L|YSK4_uc010zbg.1_Missense_Mutation_p.S380L|YSK4_uc021vpz.1_Missense_Mutation_p.S109L|YSK4_uc002tuh.4_Missense_Mutation_p.S976L|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1248	Protein kinase.						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)		CCAGATATCTGATTTCCGTCC	0.498000														30			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236088	140236088	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140236088C>T	uc003lhx.2	+	0	455	c.455C>T	c.(454-456)cCa>cTa	p.P152L	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_Missense_Mutation_p.P152L|PCDHAC2_uc011dad.2_Missense_Mutation_p.P152L	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	168	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)			TCTCGATTTCCACTAGAAGGC	0.423000														83			64		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468428	86468428	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:86468428C>T	uc003uid.3	+	3	2697	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P405L|GRM3_uc010leh.3_Missense_Mutation_p.P125L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	533					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTTGCATCCCCTGTGAACCC	0.537000														115			91		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960476	143960476	+	Missense_Mutation	SNP	G	A	A	rs145050906	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143960476G>A	uc010mey.3	-	2	509	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.R123C|CYP11B1_uc003yxj.3_Missense_Mutation_p.R123C	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTGTGCCCACGATGTTGTCTG	0.632000									Familial Hyperaldosteronism type I					31			17		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603475	111603475	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:111603475C>T	uc010hqa.3	+	1	962	c.551C>T	c.(550-552)tCc>tTc	p.S184F	PHLDB2_uc003dyc.3_Missense_Mutation_p.S211F|PHLDB2_uc003dyd.3_Missense_Mutation_p.S184F|PHLDB2_uc003dyg.3_Missense_Mutation_p.S184F|PHLDB2_uc003dyh.3_Missense_Mutation_p.S184F|PHLDB2_uc003dye.4_Missense_Mutation_p.S184F|PHLDB2_uc003dyf.4_Missense_Mutation_p.S184F	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	184						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATGGAAGTTCCCTGAGTGAT	0.547000														35			23		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32613978	32613978	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:32613978G>A	uc004dda.1	-	12	1742	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L	DMD_uc004dcz.2_Silent_p.L377L|DMD_uc004dcy.1_Silent_p.L496L|DMD_uc004ddb.1_Silent_p.L492L|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Silent_p.L492L|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	500			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTTCTAGATCTTCTTGA	0.358000														3			20		0	0	1	0	0
FAM183A	440585	broad.mit.edu	37	1	43613744	43613744	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:43613744C>T	uc009vwo.3	+	0	151	c.122C>T	c.(121-123)cCc>cTc	p.P41L		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	Homo sapiens family with sequence similarity 183, member A (FAM183A), mRNA.	41										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CACGTGAATCCCCTCCGCAAG	0.622000														47			17		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79460483	79460483	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:79460483C>T	uc003hlb.2	+	72	11774	c.11334C>T	c.(11332-11334)ttC>ttT	p.F3778F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3773					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATAAGTACTTCCATGATGTGC	0.423000														39			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064721	9064721	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9064721G>A	uc002mkp.3	-	2	22929	c.22725C>T	c.(22723-22725)tcC>tcT	p.S7575S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7577	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7574F(1)		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						CTTCTGTCCTGGAGACCTCAG	0.502000														81			48		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159850480	159850480	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159850480C>T	uc001fui.3	-	7	926	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R218Q|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R289Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	303						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478000														24			21		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279853	85279853	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:85279853C>T	uc001dkl.2	-	2	776	c.737_splice	c.e2-1	p.G246_splice	LPAR3_uc009wcj.1_Splice_Site_p.G246_splice	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	246					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CCACAAACGCCCCTGCAAGGA	0.582000														19			20		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934301	44934301	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:44934301C>T	uc002oze.1	-	5	1089	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.D213N	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGCTGTCATCATCCCAGTTA	0.388000														55			37		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383335	152383335	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:152383335G>A	uc001ezx.2	-	2	297	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	75	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTAAGACCAGGAATTCCTTG	0.537000														41			62		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762077	105762077	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:105762077C>T	uc001kxo.1	+	8	1175	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	SLK_uc001kxp.1_Missense_Mutation_p.L381F	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	381	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAATTCTTAATGAAAA	0.363000														12			35		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570724	1570724	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:1570724G>A	uc002cmb.3	-	26	3901	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_uc002clz.3_Missense_Mutation_p.S793F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1180										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612000														14			13		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164655	15164655	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:15164655G>A	uc010dzv.2	+	3	501	c.289G>A	c.(289-291)Gga>Aga	p.G97R		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	97					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTTCCTCAAGGGAGAAGATGG	0.547000														78			42		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	A	A	rs140332483		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:55846490G>A	uc001sgz.1	+	0	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(2)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000														84			59		0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239926	21239926	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:21239926C>T	uc010mis.3	-	0	53	c.9G>A	c.(7-9)ttG>ttA	p.L3L	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	3					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGCAAAGGGCAATGCCATTG	0.512000														15			47		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:22155896A>C	uc021urr.1	-	3	2089	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000														76			5		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115645	1115645	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:1115645G>A	uc001acy.2	+	5	582	c.431G>A	c.(430-432)gGg>gAg	p.G144E	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.G144E|TTLL10_uc001acz.2_Missense_Mutation_p.G71E	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	144					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)		CTCCTGCTGGGGGGTGGGAAG	0.706000														3			4		0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971334	99971334	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:99971334C>T	uc003uuo.1	+	0	267	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	PILRA_uc011kjn.1_Silent_p.L19L|PILRA_uc011kjo.2_Silent_p.L19L|PILRA_uc003uup.1_Silent_p.L19L|PILRA_uc003uuq.1_Silent_p.L19L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	19					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGCATTTCTGCAGCCTAG	0.647000														59			47		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205006	56205006	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:56205006C>T	uc002lhj.4	-	4	2627	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ALPK2_uc002lhk.1_Missense_Mutation_p.E136K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	805							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						TCAAAACACTCCATTGCACAC	0.473000														7			43		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649568	20649568	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:20649568C>T	uc001ytg.3	-	17	2650	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.G647G|HERC2P3_uc010tyy.2_Silent_p.G647G					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCCTTCTTTCCCCATCCTGT	0.597000														151			48		0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34397532	34397532	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:34397532G>A	uc003zuh.1	-	0	318	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	34										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CAGGCACACAGGGGTGGGTCC	0.567000														6			66		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933498	70933498	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:70933498G>A	uc021vjc.1	-	2	308	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.P15S|ADD2_uc002sgz.3_Missense_Mutation_p.P15S|ADD2_uc010fdt.2_Missense_Mutation_p.P15S|ADD2_uc002shc.2_Missense_Mutation_p.P15S|ADD2_uc010fdu.2_Missense_Mutation_p.P31S	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	15					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCCCCTGCGGGGGCGGCGGC	0.632000														53			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066184	9066184	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9066184G>A	uc002mkp.3	-	2	21466	c.21262C>T	c.(21262-21264)Ccc>Tcc	p.P7088S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAGAGGGAGAGCTTTGC	0.502000														32			26		0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169020276	169020276	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:169020276T>C	uc002uea.3	-	3	705	c.545A>G	c.(544-546)tAt>tGt	p.Y182C		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	182	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TCTGTGTAGATAGTCTAAGCC	0.378000														50			4		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938064	12938064	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:12938064T>A	uc004cvd.3	+	2	1129	c.959T>A	c.(958-960)aTt>aAt	p.I320N	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.I302N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	302					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGAAGATTAATGCTGCC	0.403000														2			39		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537388	55537388	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:55537388G>A	uc003xsd.1	+	3	1094	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	316					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATCCTTCTGAAGATGATAT	0.303000														11			11		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150500	247150500	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:247150500A>T	uc009xgu.3	-	3	1502	c.1317T>A	c.(1315-1317)gaT>gaA	p.D439E	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	439					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCACATTCATCACATTTGT	0.368000														64			3		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019286	62019286	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:62019286C>T	uc002jds.1	-	23	4433	c.4356G>A	c.(4354-4356)ctG>ctA	p.L1452L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1452					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAATCCGCGCCAGGCGGATCA	0.637000														24			16		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572553	140572553	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140572553C>T	uc003lix.3	+	0	602	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAAATATCAGAAAATACA	0.433000														42			32		0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686150	4686150	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:4686150G>A	uc002fyw.1	+	4	427	c.396_splice	c.e4-1	p.A132_splice		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	132						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CTCCCACAGGGGAGCTTACTT	0.667000														34			33		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344172	162344172	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:162344172C>T	uc001gbx.2	-	2	516	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	151										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)			GGTGGCTTCTCGAGGGCAAGT	0.557000														123			159		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599020	64599020	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64599020G>A	uc001obs.4	-	27	3261	c.3261C>T	c.(3259-3261)aaC>aaT	p.N1087N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1087					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGGCAGCCCGTTGTCGTAAG	0.677000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		71			36		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680290	36680290	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:36680290G>A	uc003apg.3	-	39	5845	c.5614C>T	c.(5614-5616)Ctg>Ttg	p.L1872L		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTGCTTCAGGCGGGTAGAT	0.701000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					9			5		0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40864065	40864065	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:40864065C>T	uc001zmd.1	+	1	869	c.869C>T	c.(868-870)tCt>tTt	p.S290F	RPUSD2_uc021sjh.1_Missense_Mutation_p.S229F	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	290					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCTGCAGTCTCTGAGAGAATT	0.552000														65			54		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476428	228476428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:228476428G>A	uc009xez.1	+	37	10222	c.10178G>A	c.(10177-10179)tGg>tAg	p.W3393*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.W3393*|OBSCN_uc001hsq.1_Nonsense_Mutation_p.W649*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3393	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGTGGAGTGGAGGAAGGGG	0.622000														116			37		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673914	113673914	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:113673914G>A	uc001poh.3	-	22	2861	c.2828C>T	c.(2827-2829)tCc>tTc	p.S943F	USP28_uc001pog.3_Missense_Mutation_p.S619F|USP28_uc010rwy.2_Missense_Mutation_p.S786F|USP28_uc001poi.3_Missense_Mutation_p.S266F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	943					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)		AGCAATCACGGATTCTTTGAC	0.463000														68			52		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	213403228	213403228	+	Silent	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:213403228G>C	uc002veg.1	-	0	125	c.27C>G	c.(25-27)gtC>gtG	p.V9V	ERBB4_uc002veh.1_Silent_p.V9V|ERBB4_uc010zji.1_Silent_p.V9V|ERBB4_uc010zjj.1_Silent_p.V9V|ERBB4_uc010fut.1_Silent_p.V9V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	9					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.W8R(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGCTCACCCAGACCCAAAGTC	0.612000										TSP Lung(8;0.080)				64			49		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544028	154544028	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:154544028C>T	uc001ffg.3	+	4	993	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	243					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACCTCATCATCCCCTGTGTGC	0.562000														152			69		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:96466555C>T	uc001kjv.4	+	4	983	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	219					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)	GCAATAATTTCCCTGCTCTCA	0.299000														0			5		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906390	164906390	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:164906390G>A	uc003fej.4	-	1	2673	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	SLITRK3_uc003fek.3_Silent_p.I743I|SLITRK3_uc021xgy.1_Silent_p.I743I	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	743						integral to membrane		p.I743I(2)|p.I743N(1)		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						CCGGGTGGGGGATGTACTCAT	0.582000										HNSCC(40;0.11)				66			41		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553525	19553525	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:19553525G>A	uc001vuz.1	+	0	161	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	37										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGTGCAGGGGGAGCGGCAA	0.592000														267			32		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40043946	40043946	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:40043946A>C	uc002hyg.3	-	16	1944	c.1781T>G	c.(1780-1782)aTc>aGc	p.I594S	ACLY_uc002hyh.3_Missense_Mutation_p.I584S|ACLY_uc002hyi.3_Missense_Mutation_p.I648S|ACLY_uc010wfx.2_Missense_Mutation_p.I638S|ACLY_uc010wfy.2_Missense_Mutation_p.I323S	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	594					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TATGATGGCGATGGTCCGGAT	0.547000														34			21		0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988228	45988228	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:45988228C>T	uc003cpc.1	+	1	336	c.255C>T	c.(253-255)ccC>ccT	p.P85P	FYCO1_uc003cpb.4_Intron|FYCO1_uc011bal.1_Intron|CXCR6_uc010hix.1_Silent_p.P85P|CXCR6_uc021www.1_Silent_p.P85P	NM_006564	NP_006555	O00574	CXCR6_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 6 (CXCR6), mRNA.	85					viral genome replication	integral to plasma membrane	coreceptor activity	p.L84L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCACTCTGCCCTTCTGGGCCT	0.517000														83			76		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230746	56230746	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56230746G>A	uc010rjj.2	-	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TAATCAAAATGATCATACCAA	0.473000														20			18		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34285366	34285366	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:34285366C>T	uc001bxm.1	-	8	1449	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	CSMD2_uc001bxn.1_Missense_Mutation_p.M384I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	384	CUB 3.					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)				CGCTCACTTTCATACAGGTGA	0.602000														14			12		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017251	72017251	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:72017251G>A	uc001swo.2	-	23	4992	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1545					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCATTAGATGGATCATAAAAT	0.348000														51			38		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681376	44681376	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:44681376C>T	uc003bet.2	-	3	664	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	177						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTGCACGGCCTGTGGGGCTT	0.682000														58			61		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552817	50552817	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:50552817G>A	uc003bjj.3	+	6	975	c.892G>A	c.(892-894)Gga>Aga	p.G298R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G298R|MOV10L1_uc011arp.2_Missense_Mutation_p.G278R|MOV10L1_uc011arq.1_Missense_Mutation_p.G59R|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	298					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGGAATAAAGGAGACATTCC	0.368000														21			14		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65448919	65448919	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:65448919G>T	uc001ssk.3	-	8	1372	c.997C>A	c.(997-999)Cat>Aat	p.H333N		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	333	EGF-like 5.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGTCTTCCATGCCAACCTTCT	0.413000			T	HMGA2	pleomorphic salivary gland adenoma									45			35		1.57019e-19	1.58917e-19	1	1	0
ANO2	57101	broad.mit.edu	37	12	5744514	5744514	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:5744514C>T	uc001qnm.2	-	17	1693	c.1621_splice	c.e17-1	p.I541_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	546						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCAGGGCAATCTGTTTGGGAA	0.453000														19			15		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135612789	135612789	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:135612789C>T	uc003yup.3	-	6	2551	c.2365G>A	c.(2365-2367)Gta>Ata	p.V789I	ZFAT_uc003yun.3_Missense_Mutation_p.V777I|ZFAT_uc003yuo.3_Missense_Mutation_p.V777I|ZFAT_uc010meh.3_Missense_Mutation_p.V777I|ZFAT_uc010mej.3_Missense_Mutation_p.V727I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V777I|ZFAT_uc003yur.3_Missense_Mutation_p.V777I|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCTGAATTACGTGGCGTTTA	0.428000														79			49		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185988675	185988675	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:185988675C>T	uc001grq.1	+	34	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1825					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						AAATATAGTTCCTCCAACAAT	0.403000														81			33		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498897	66498897	+	RNA	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:66498897T>A	uc011dxw.2	+	0		c.1126T>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GAGGTCCCATTAAGGAGCATC	0.433000														14			18		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698756	19698756	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:19698756C>T	uc002ykw.3	-	15	1945	c.1914G>A	c.(1912-1914)ggG>ggA	p.G638G		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	638					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACCTGGAATCCCCAAGTGAT	0.408000														83			64		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575870	43575870	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:43575870A>T	uc002ovr.3	-	3	1118	c.946T>A	c.(946-948)Ttg>Atg	p.L316M	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	316	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTGACTGTCAACGATGTGGAG	0.458000														187			126		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557901	76557901	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:76557901C>T	uc010dhp.2	-	11	1856	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	DNAH17_uc002jvv.2_Silent_p.L279L	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.P576L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTGTGGATCAGGGGGATGT	0.562000														19			5		0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50848181	50848181	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:50848181C>T	uc001rwp.2	+	9	1304	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	LARP4_uc001rwq.2_Nonsense_Mutation_p.R297*|LARP4_uc001rwt.2_Nonsense_Mutation_p.R297*|LARP4_uc001rws.2_Nonsense_Mutation_p.R367*|LARP4_uc001rwr.2_Nonsense_Mutation_p.R368*|LARP4_uc021qxv.1_Nonsense_Mutation_p.R298*|LARP4_uc009zlr.1_Nonsense_Mutation_p.R187*|LARP4_uc001rwm.3_Nonsense_Mutation_p.R368*|LARP4_uc001rwn.3_Nonsense_Mutation_p.R298*	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	368							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAATATGGGTCGACCATTCCA	0.338000														21			15		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143562694	143562694	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143562694C>T	uc003ywm.3	+	8	2091	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	636					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTGTGTTTCCATTGACTACA	0.607000														50			39		0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786656	160786656	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:160786656G>A	uc003fdr.3	+	3	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_uc003fds.3_Missense_Mutation_p.R86Q|PPM1L_uc003fdt.3_Missense_Mutation_p.R138Q|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	265	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCATGTCTCGGTCCCTGGGG	0.512000														25			26		0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491608	4491608	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:4491608C>T	uc002mao.3	+	4	628	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	HDGFRP2_uc002map.3_Nonsense_Mutation_p.Q179*|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	179	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGACCTGGATCAGGCCAGCGT	0.627000														35			28		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15637048	15637048	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:15637048G>A	uc001rcv.2	+	1	686	c.216G>A	c.(214-216)gaG>gaA	p.E72E	PTPRO_uc001rcw.2_Silent_p.E72E|PTPRO_uc001rcu.2_Silent_p.E72E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	72	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCGAATTTGAGGAATTCAACA	0.383000														20			21		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422479	26422479	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:26422479C>T	uc003abz.1	+	42	6789	c.6539C>T	c.(6538-6540)aCc>aTc	p.T2180I	MYO18B_uc003aca.1_Missense_Mutation_p.T2061I|MYO18B_uc010guy.1_Missense_Mutation_p.T2062I|MYO18B_uc010guz.1_Missense_Mutation_p.T2060I|MYO18B_uc011aka.1_Missense_Mutation_p.T1334I|MYO18B_uc011akb.1_Missense_Mutation_p.T1693I|MYO18B_uc010gva.1_Missense_Mutation_p.T163I|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2180						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCGGTCCACCAATGTCCAC	0.547000														69			67		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142379036	142379036	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142379036C>T	uc003waa.1	+	1	304	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GTCTGCCAGGCCCTCACATAC	0.507000														50			26		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246951	80246951	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:80246951C>T	uc003hlt.4	-	0	221	c.81G>A	c.(79-81)caG>caA	p.Q27Q	NAA11_uc021xpl.1_Silent_p.Q27Q	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	27	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGTATTTCATCTGGTAGTTCT	0.488000														33			25		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000874	41000874	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41000874C>T	uc003jmj.4	-	37	4746	c.4256G>A	c.(4255-4257)gGa>gAa	p.G1419E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G974E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1419							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						CCACCTTCTTCCTGTTAGGGG	0.443000														2			7		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44900701	44900701	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:44900701G>A	uc001ztx.3	-	18	3425	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	SPG11_uc010ueh.2_Missense_Mutation_p.P1132S|SPG11_uc010uei.2_Missense_Mutation_p.P1132S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1132					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGCACTGTGGGAAGAGAGCA	0.408000														64			34		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617709	54617709	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:54617709C>T	uc022adk.1	+	3	885	c.480C>T	c.(478-480)ttC>ttT	p.F160F	VSTM2A_uc010kzf.3_Silent_p.F160F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	160						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGCAGGCCTTCGAAGCCTCGC	0.592000														10			6		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857824	57857824	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:57857824C>T	uc001snx.3	+	2	237	c.143C>T	c.(142-144)tCc>tTc	p.S48F	GLI1_uc009zpp.2_Non-coding_Transcript|GLI1_uc021qzi.1_Intron|GLI1_uc009zpq.3_Intron|GLI1_uc009zpr.1_Intron	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	48					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.M47I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AACCTCATGTCCGGCCCCCAC	0.547000														145			85		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392632	178392632	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:178392632G>A	uc003mjo.2	+	4	1528	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF454_uc010jkz.2_Silent_p.E409E|ZNF454_uc021yjc.1_Silent_p.E409E	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ACACTGGAGAGAAACCTTACA	0.408000														49			35		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73538035	73538035	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:73538035C>T	uc001jrx.4	+	37	5538	c.5148C>T	c.(5146-5148)atC>atT	p.I1716I		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1719	Cadherin 16.		Q -> P (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGTGCCCCATCTTATCCCACC	0.612000														9			32		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128304509	128304509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:128304509G>A	uc003qbk.3	-	22	3629	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*	PTPRK_uc010kfc.3_Nonsense_Mutation_p.R1095*|PTPRK_uc003qbj.3_Nonsense_Mutation_p.R1089*|PTPRK_uc011ebu.2_Nonsense_Mutation_p.R1111*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1088	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAGCCAGTTCGTCCAGCACCA	0.383000														50			43		0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126062715	126062715	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:126062715G>A	uc011bkk.1	-	2	1288	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	369						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CCTGTGCCGCGACAGCTCGTC	0.667000														5			13		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177836	7177836	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:7177836G>A	uc001qsj.3	+	14	2667	c.1948G>A	c.(1948-1950)Gct>Act	p.A650T	C1S_uc001qsk.3_Missense_Mutation_p.A650T|C1S_uc001qsl.3_Missense_Mutation_p.A650T|C1S_uc009zfr.3_Missense_Mutation_p.A483T|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	650	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATTCTACGCAGCTGGCCTGGT	0.522000														108			68		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:73962509C>T	uc004eby.3	-	2	2500	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	628					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000														0			15		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25207350	25207350	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:25207350A>G	uc001ywu.3	+	1	230	c.104A>G	c.(103-105)aAc>aGc	p.N35S	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TCACTGAGCAACCAAGAGTGA	0.438000									Prader-Willi syndrome					51			41		0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874041	87874041	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:87874041G>A	uc002fkm.3	-	3	881	c.809C>T	c.(808-810)cCc>cTc	p.P270L		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	270					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GTACCTGTAGGGGTTGATCAT	0.423000														7			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:106757778C>T	uc021ser.1	-	749		c.19600G>A								Parts of antibodies, mostly variable regions.																		TAGGATTTTTCGTCATTCGAA	0.532000														1			34		0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75669983	75669983	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:75669983C>T	uc002feq.3	-	4	544	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	KARS_uc002fer.3_Missense_Mutation_p.E194K|KARS_uc010cgz.3_Missense_Mutation_p.E10K	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	166					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AATTCTTCTTCTGATTTATAA	0.378000														2			7		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424971	113424971	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:113424971G>A	uc001tuj.3	+	1	446	c.306G>A	c.(304-306)ggG>ggA	p.G102G	OAS2_uc001tuh.3_Silent_p.G102G|OAS2_uc001tui.1_Silent_p.G102G	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	102	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATAAAACTGGGGATAAGCTGA	0.438000														41			31		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700305	136700305	+	Silent	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:136700305T>A	uc003vtf.1	+	3	1316	c.693T>A	c.(691-693)gtT>gtA	p.V231V	CHRM2_uc003vtg.1_Silent_p.V231V|CHRM2_uc003vti.1_Silent_p.V231V|CHRM2_uc003vtm.1_Silent_p.V231V|CHRM2_uc003vtj.1_Silent_p.V231V|CHRM2_uc003vtk.1_Silent_p.V231V|CHRM2_uc003vtl.1_Silent_p.V231V|CHRM2_uc003vtn.1_Silent_p.V231V|CHRM2_uc003vto.1_Silent_p.V231V|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.V231V	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	231					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAGACCCCGTTTCTCCAAGTC	0.483000														12			16		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67610133	67610133	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:67610133C>T	uc001xiy.3	+	16	2825	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	GPHN_uc001xix.3_Silent_p.I601I|GPHN_uc010tss.2_Silent_p.I614I|GPHN_uc010tst.2_Silent_p.I537I|GPHN_uc010tsu.2_Silent_p.I491I	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	568	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTGATGTCATCATCACATCAG	0.403000			T	MLL	AL									120			88		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468714	10468714	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:10468714G>A	uc003wtc.3	-	3	3123	c.2894C>T	c.(2893-2895)cCa>cTa	p.P965L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	965					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCTCTTCTGGAATGTTGTC	0.642000														51			37		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201859	1201859	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:1201859C>T	uc003jbw.4	+	0	150	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	32					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCAGCTCCCGGCCGAAGTG	0.667000														27			17		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387752	10387752	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10387752C>T	uc003bvt.3	-	16	2913	c.2474G>A	c.(2473-2475)gGg>gAg	p.G825E	ATP2B2_uc003bvv.3_Missense_Mutation_p.G780E|ATP2B2_uc003bvw.3_Missense_Mutation_p.G780E|ATP2B2_uc010hdo.3_Missense_Mutation_p.G530E	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	825					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGTGCAGGCCCGTCGTTGGT	0.657000														24			23		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212941	26212941	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:26212941G>A	uc022buc.1	+	0	978	c.978G>A	c.(976-978)ggG>ggA	p.G326G	MAGEB6_uc004dbr.3_Silent_p.G326G	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	326	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAATCTATGGGGATGCTCGGA	0.488000														8			89		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975440	20975441	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20975440_20975441CC>TT	uc010vbe.2	-	52	9765_9766	c.9765_9766GG>AA	c.(9763-9768)gaggat>gaAAat	p.D3256N	DNAH3_uc010vbd.2_Missense_Mutation_p.D691N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3256	AAA 5 (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)		GCGGTTTCATCCTCCAGGATGT	0.441000														56			59		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910338	68910338	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:68910338C>T	uc001dei.1	-	4	425	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	124					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.R124L(2)|p.R124*(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTCTACTCCTCGAAAGTAAGA	0.363000														16			11		0	0	1	0	0
SLC25A43	203427	broad.mit.edu	37	X	118544178	118544178	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:118544178C>T	uc004erd.3	+	2	652	c.543C>T	c.(541-543)tcC>tcT	p.S181S	SLC25A43_uc004erc.2_Non-coding_Transcript|SLC25A43_uc011mtt.2_Intron	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	Homo sapiens solute carrier family 25, member 43 (SLC25A43), nuclear gene encoding mitochondrial protein, mRNA.	181					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGCTGGCTCCCTTCTTGTTT	0.517000														5			69		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038035	67038035	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67038035G>T	uc002eqv.3	+	8	1172	c.1057G>T	c.(1057-1059)Gac>Tac	p.D353Y	CES4A_uc010vix.2_Missense_Mutation_p.D330Y|CES4A_uc002eqw.3_Missense_Mutation_p.D330Y|CES4A_uc010viy.2_Missense_Mutation_p.D236Y|CES4A_uc002eqx.3_Missense_Mutation_p.D136Y|CES4A_uc002eqy.3_Missense_Mutation_p.D232Y	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	330						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GATCCCAGATGACCCTTTGGT	0.512000														68			4		1	1	1	1	0
ODZ3	55714	broad.mit.edu	37	4	183664346	183664346	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:183664346G>T	uc003ivd.1	+	17	3478	c.3403G>T	c.(3403-3405)Gaa>Taa	p.E1135*	ODZ3_uc003ive.1_Nonsense_Mutation_p.E541*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1135					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGAAACGGGGAAAACCAGTT	0.438000														27			10		2.80697e-09	2.82808e-09	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32582405	32582405	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:32582405G>C	uc002yow.1	-	11	2816	c.2344C>G	c.(2344-2346)Cgg>Ggg	p.R782G	TIAM1_uc011adk.1_Missense_Mutation_p.R782G|TIAM1_uc011adl.1_Missense_Mutation_p.R757G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	782	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCGCCTGGCCGGACGACCGTC	0.552000														35			28		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145539064	145539064	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:145539064C>T	uc001eoa.3	+	24	3080	c.3004C>T	c.(3004-3006)Cta>Tta	p.L1002L	ITGA10_uc010oyv.2_Silent_p.L871L|ITGA10_uc009wiw.3_Silent_p.L859L|ITGA10_uc010oyw.2_Silent_p.L947L	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	1002					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAATTACTTCCTATCACTGTC	0.532000														51			52		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89476122	89476122	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:89476122C>T	uc021vkt.1	-	32		c.3431_splice	c.e32-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		CCCACTGGATCCTGAAATAAT	0.408000														60			44		0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183583	99183583	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:99183583G>A	uc001yfz.2	+	3	769	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	117										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CTGTTCAAAGGAACTGTAGAA	0.413000														36			21		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7174618	7174618	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:7174618G>A	uc002mgd.1	-	3	1208	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	INSR_uc002mge.1_Silent_p.L367L|INSR_uc002mgf.3_Silent_p.L367L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	367					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGATGATCAGACTCCCGTTG	0.597000														63			53		0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26772844	26772844	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:26772844C>T	uc001bmk.3	+	4	511	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	DHDDS_uc001bml.3_Silent_p.L121L|DHDDS_uc001bmn.3_Intron|DHDDS_uc010ofd.2_Silent_p.L121L|DHDDS_uc001bmm.3_Silent_p.L28L	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	121							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TATCCGGGTCCTGGGCGATCT	0.537000														53			43		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119445	1119445	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:1119445G>A	uc001acy.2	+	11	1385	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TTLL10_uc010nyg.1_Missense_Mutation_p.D412N|TTLL10_uc001acz.2_Missense_Mutation_p.D339N	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	412	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)		CCATTCCAGCGACCTCGGCGG	0.597000														136			111		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52472502	52472502	+	Missense_Mutation	SNP	C	T	T	rs149021065		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	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														56			42		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129247	46129247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:46129247G>A	uc003oxz.1	-	3	1458	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Missense_Mutation_p.P323L|ENPP5_uc003oya.1_Missense_Mutation_p.P417L	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	417						extracellular region|integral to membrane	hydrolase activity	p.P417H(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AACACTACCAGGGAGGAGTAT	0.438000														19			28		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168212	69168212	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:69168212C>T	uc003dns.2	-	1	1503	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LMOD3_uc003dnt.2_Missense_Mutation_p.E432K	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	432						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CCCAACAGCTCCCACATCCCA	0.547000														40			29		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359748	40359748	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:40359748C>T	uc003oph.1	-	2	2769	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	768						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGTCACTCTCCTCAAAGG	0.637000														50			37		0	0	1	0	0
COMMD2	51122	broad.mit.edu	37	3	149468623	149468623	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:149468623A>G	uc003exj.2	-	3	299	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	Homo sapiens COMM domain containing 2 (COMMD2), mRNA.	82							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAGTCTTGGAAATCCAGTTCA	0.308000														14			16		0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611307	7611307	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7611307C>T	uc002gis.3	+	1	551	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	52					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGTGCTGTACCCTCAGATCGG	0.597000														43			27		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537502	73537502	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:73537502C>T	uc001jrx.4	+	36	5292	c.4902C>T	c.(4900-4902)ccC>ccT	p.P1634P		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1637	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGCAGCCCCACTATGAGG	0.582000														2			9		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124345710	124345710	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:124345710G>A	uc001uft.4	+	37	6572	c.6547G>A	c.(6547-6549)Gag>Aag	p.E2183K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2183	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGACAAGAAGGAGCGAAAGTG	0.448000														17			10		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212073	236212073	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:236212073G>A	uc001hxo.3	-	1	544	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	NID1_uc009xgd.3_Nonsense_Mutation_p.Q148*	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	148	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTACTAGGCTGGAAAGAGATC	0.587000														32			19		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207842	132207842	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:132207842C>T	uc011ecf.2	+	23	2605	c.2585C>T	c.(2584-2586)aCt>aTt	p.T862I		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	862	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTCACAGGACTGATAACAGC	0.383000														32			30		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661890	36661890	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:36661890G>A	uc003ape.3	+	6	1330	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	APOL1_uc011amn.1_Silent_p.T213T|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.T213T|APOL1_uc003apf.3_Silent_p.T336T|APOL1_uc011amp.2_Silent_p.T336T|APOL1_uc011amq.2_Silent_p.T318T|APOL1_uc010gwx.3_Silent_p.T213T	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	336					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCAAGCTCACGGATGTGGCCC	0.532000														27			19		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016220	27016220	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:27016220C>T	uc001mrd.3	+	0	593	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	49						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACGATGACCCCGAGAAGTGCC	0.627000														30			19		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749124	2749124	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:2749124G>A	uc003jda.3	-	2	940	c.698C>T	c.(697-699)tCg>tTg	p.S233L	IRX2_uc003jdb.3_Missense_Mutation_p.S233L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGACTCGGCCGAGCACGAGTG	0.697000														30			21		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245684	46245684	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:46245684G>T	uc001ros.1	+	14	3778	c.3778G>T	c.(3778-3780)Gaa>Taa	p.E1260*	ARID2_uc001ror.3_Nonsense_Mutation_p.E1260*|ARID2_uc009zkg.1_Nonsense_Mutation_p.E716*|ARID2_uc009zkh.1_Nonsense_Mutation_p.E887*|ARID2_uc001rou.1_Nonsense_Mutation_p.E594*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGTTCATGAACGTAAAAT	0.433000			"""N, S, F"""		hepatocellular carcinoma									29			30		1.30998e-17	1.32381e-17	1	1	0
NELL1	4745	broad.mit.edu	37	11	20948884	20948884	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:20948884T>G	uc009yid.3	+	8	1027	c.874T>G	c.(874-876)Ttg>Gtg	p.L292V	NELL1_uc010rdp.2_Missense_Mutation_p.L24V|NELL1_uc001mqe.3_Missense_Mutation_p.L264V|NELL1_uc001mqf.3_Missense_Mutation_p.L264V|NELL1_uc010rdo.2_Missense_Mutation_p.L207V	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	264	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTTAGTCAATTGGAAAACTG	0.393000														34			27		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673215	113673215	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:113673215T>A	uc003eau.3	+	2	1129	c.830T>A	c.(829-831)aTa>aAa	p.I277K	ZDHHC23_uc003eav.3_Missense_Mutation_p.I271K	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	277						integral to membrane	acyltransferase activity|zinc ion binding	p.R276R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CACTGCCGGATATGTGGCATC	0.512000														9			11		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322777	134322777	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:134322777C>T	uc010hty.3	-	10	1692	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.E523K	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	544						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTCCTGGTTCCTGCCTCTTC	0.517000														31			16		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723214	170723214	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:170723214C>T	uc003fhe.1	-	6	1132	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	SLC2A2_uc003fhf.1_Missense_Mutation_p.E102K|SLC2A2_uc011bpu.1_Missense_Mutation_p.E148K	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	275					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TTTCTCATTTCATTAATATCT	0.388000														17			6		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487294	1487294	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:1487294C>T	uc002ltb.1	-	6	763	c.701G>A	c.(700-702)gGt>gAt	p.G234D	PCSK4_uc002lta.2_Missense_Mutation_p.G46D	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	234	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGATGGTACCGTCCAGCAT	0.706000														12			5		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777224	201777224	+	Silent	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:201777224T>C	uc021phi.1	+	17	4139	c.3792T>C	c.(3790-3792)gcT>gcC	p.A1264A	NAV1_uc001gwu.3_Silent_p.A1261A|NAV1_uc001gwx.3_Silent_p.A870A|MIR1231_uc021phj.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1264					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGAGACTGCTTCACCCTCCA	0.547000														131			61		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397380	140397380	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:140397380C>T	uc003eto.2	+	0	515	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	103						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCATCACTTTCCACAAGGGCC	0.557000														19			19		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652225	165652225	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:165652225G>A	uc001gdh.1	-	2	555	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ALDH9A1_uc010pky.1_Silent_p.S56S|ALDH9A1_uc010pkz.1_Silent_p.S140S|ALDH9A1_uc010pla.1_Silent_p.S56S	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	126				C -> Q (in Ref. 7; AA sequence).	carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TACCAGCCATGGATGCAGCCA	0.502000														22			40		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680671	36680671	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:36680671C>T	uc003jkj.4	+	7	1745	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SLC1A3_uc011cox.2_Silent_p.F316F|SLC1A3_uc010iuy.3_Silent_p.F423F	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	423					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AACTGAACTTCGGACAAATTA	0.453000														43			39		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5425071	5425071	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:5425071G>A	uc002gci.3	-	12	4111	c.3556C>T	c.(3556-3558)Cac>Tac	p.H1186Y	NLRP1_uc002gcg.1_Missense_Mutation_p.H1190Y|NLRP1_uc002gch.4_Missense_Mutation_p.H1186Y|NLRP1_uc002gck.3_Missense_Mutation_p.H1186Y|NLRP1_uc002gcj.3_Missense_Mutation_p.H1156Y|NLRP1_uc002gcl.3_Missense_Mutation_p.H1156Y	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1186					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTTTAAAGTGGGCCATTTGG	0.483000														35			39		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745604	50745604	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:50745604G>A	uc002egm.1	+	3	1887	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G	NOD2_uc021tia.1_Silent_p.G426G|NOD2_uc010cbk.1_Silent_p.G567G|NOD2_uc002egl.1_Silent_p.G372G|NOD2_uc010cbl.1_Silent_p.G372G|NOD2_uc010cbm.1_Silent_p.G372G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	594	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCGTGCCAGGGAGTACGGCGC	0.577000														3			7		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845390	39845390	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:39845390G>A	uc010lwy.1	+	7	731	c.489_splice	c.e7-1	p.G163_splice	IDO2_uc003xno.1_Splice_Site|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	150					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.G163G(1)|p.G150G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCTTCCCAAGGAACCTGGAGA	0.512000														9			6		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917254	7917254	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7917254G>A	uc002gjt.2	+	11	2394	c.2320G>A	c.(2320-2322)Gac>Aac	p.D774N		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	774	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGTGTCCATGGACCAGGCACC	0.642000														72			54		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841101	18841101	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:18841101C>T	uc021qvx.1	-	12	1704	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	PLCZ1_uc001rdv.4_Missense_Mutation_p.D401N|PLCZ1_uc001rdw.4_Missense_Mutation_p.D246N|PLCZ1_uc001rdu.1_Missense_Mutation_p.D287N|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	505	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACTAATGAATCACCTTTGTTA	0.318000														38			32		0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41345501	41345501	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:41345501C>T	uc010whv.2	+	11	1453	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	NBR1_uc010czd.3_Missense_Mutation_p.S457F|NBR1_uc010diz.3_Missense_Mutation_p.S457F|NBR1_uc010whu.2_Missense_Mutation_p.S457F|NBR1_uc010whw.2_Missense_Mutation_p.S436F|NBR1_uc010whx.1_Missense_Mutation_p.S266F	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	457					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACGTATACTTCCCATTGGCGT	0.512000														13			9		0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216190051	216190051	+	Splice_Site	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:216190051T>A	uc002vex.4	+	5	566	c.379_splice	c.e5+1	p.G127_splice	ATIC_uc010zjo.2_Splice_Site_p.G68_splice|ATIC_uc002vey.4_Splice_Site_p.G126_splice	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	127					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AAATTGACATTGGTAAGTCAG	0.353000			T	ALK	ALCL									22			10		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141438	29141438	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29141438C>T	uc011dlm.2	+	0	128	c.26C>T	c.(25-27)tCg>tTg	p.S9L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGCAAGTTCGGAAGACTTC	0.368000														45			24		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	899919	899919	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:899919G>A	uc021zym.1	+	13	1699	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Missense_Mutation_p.R457Q|SUN1_uc003sjf.3_Missense_Mutation_p.R477Q|SUN1_uc003sjg.3_Missense_Mutation_p.R465Q|SUN1_uc011jvr.2_Missense_Mutation_p.R358Q|SUN1_uc003sji.3_Missense_Mutation_p.R398Q|SUN1_uc003sjk.3_Missense_Mutation_p.R199Q	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	587					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGATCCTGCGGAACGTCACC	0.597000														26			20		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:88669548G>A	uc002bme.2	-	12	1656	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.2_Silent_p.F450F|NTRK3_uc021sua.1_Silent_p.F442F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.3_Silent_p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				55			20		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416185	9416185	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:9416185C>T	uc010oae.2	+	1	574	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SPSB1_uc001apv.3_Missense_Mutation_p.P79S	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	79	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCGGCATCCGGTGGCCCA	0.572000														141			133		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29811295	29811295	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:29811295C>T	uc002dts.3	+	7	1229	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.A334A|KIF22_uc010vdw.1_Silent_p.A334A	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	402					DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CAAAGAGAGCCCGAGGCCCTG	0.587000														44			13		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166011006	166011006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166011006G>A	uc002ucx.3	-	10	1828	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.Q446*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.Q446*|SCN3A_uc002uda.1_Nonsense_Mutation_p.Q315*|SCN3A_uc002udb.1_Nonsense_Mutation_p.Q315*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCATCTGCTGAAATTCGGCC	0.398000														34			38		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615707	55615707	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:55615707C>T	uc010spf.2	+	0	899	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G299V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTGAAAGGGGCTGTCAAGAGG	0.438000														42			21		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899942	151899942	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:151899942G>A	uc022chj.1	-	0	859	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.L287L|MAGEA12_uc022chi.1_Silent_p.L287L|MAGEA12_uc004fgc.3_Silent_p.L287L	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	287	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGGTGCAGGACTTTCACA	0.542000														17			121		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360061	71360061	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:71360061C>T	uc011mqa.2	+	5	2663	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	NHSL2_uc004eak.1_Missense_Mutation_p.P522L|NHSL2_uc010nli.2_Missense_Mutation_p.P657L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	888										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCACAAGCCACCATCTGTT	0.547000														4			24		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063628	3063628	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:3063628C>T	uc010uwo.1	+	0	1172	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	89					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CATTGCCCTCCTGCTGGCCCT	0.657000														41			31		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798206	55798206	+	Silent	SNP	C	T	T	rs142110904	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55798206C>T	uc010riw.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F104F(2)|p.F104V(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTTTTCTTCGCTTCTTTTG	0.458000														24			10		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032631	55032631	+	Silent	SNP	A	G	G	rs143400868	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55032631A>G	uc010rid.2	+	1	386	c.300A>G	c.(298-300)ctA>ctG	p.L100L		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	84						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTCTCTGGCTATTCCTGAGCT	0.463000														32			20		0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99808247	99808247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:99808247G>A	uc003hue.2	-	4	1905	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	EIF4E_uc011cea.1_Missense_Mutation_p.R148C|EIF4E_uc011ceb.1_Missense_Mutation_p.R128C|EIF4E_uc011cec.1_Missense_Mutation_p.R128C	NM_001968	NP_001959	P06730	IF4E_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA.	128					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex	RNA cap binding|protein binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AGCCAAAAGCGATCGAGGTCA	0.373000														88			70		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177182	44177182	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:44177182C>T	uc003gwu.3	-	1	1331	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACAGGAAGTCCCACTTTCAC	0.468000										HNSCC(17;0.042)				32			18		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874151	39874151	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:39874151C>T	uc003opb.3	-	9	2031	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Silent_p.G528G	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	631	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATGGAAGTCCCCCCGCTGAC	0.587000														109			96		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476102	65476102	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:65476102C>T	uc011moz.2	+	16	3125	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	HEPH_uc004dwn.3_Silent_p.T945T|HEPH_uc004dwo.3_Silent_p.T675T|HEPH_uc010nkr.3_Silent_p.T753T|HEPH_uc011mpa.2_Silent_p.T945T|HEPH_uc010nks.3_Silent_p.T234T	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	942	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTGGCAACCCATGGGTCCC	0.423000														3			56		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958463	50958463	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50958463G>A	uc002psf.2	+	18	2164	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	705	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAAGATGATCGAGGGCATCCT	0.517000														46			35		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394112	164394112	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:164394112C>T	uc003iqp.4	-	0	936	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	259						cytoplasm	metal ion binding|transketolase activity	p.A258V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCCAATTTTCTGCATCCTCA	0.413000														75			59		0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67241973	67241973	+	Silent	SNP	C	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67241973C>A	uc002esd.3	-	2	1203	c.306G>T	c.(304-306)ctG>ctT	p.L102L	LRRC29_uc002ese.3_Silent_p.L102L|LRRC29_uc002esf.3_Silent_p.L102L|LRRC29_uc002esg.3_Silent_p.L102L	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	Homo sapiens leucine rich repeat containing 29 (LRRC29), transcript variant 1, mRNA.	102										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACAGCTGCCTCAGCTGGAGAA	0.597000														1			5		0.000602214	0.000604017	1	1	0
MUC15	143662	broad.mit.edu	37	11	26582647	26582647	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:26582647T>C	uc001mqw.3	-	4	1324	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.M324V|MUC15_uc001mqy.3_Missense_Mutation_p.M301V	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	324						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATGTCATCCATAGGAATGCCA	0.393000														50			44		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887493	12887493	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12887493C>T	uc001auk.2	-	2	560	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	122								p.D121N(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGAGGTATTCATCCAGAGTC	0.473000														222			169		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933372	127933372	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:127933372G>A	uc010mwv.3	-	2	495	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	PPP6C_uc004bpg.4_Missense_Mutation_p.H55Y|PPP6C_uc010mww.3_Missense_Mutation_p.H55Y|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	55					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGTCCATGGATATCTCCA	0.378000														15			83		0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3782450	3782450	+	Splice_Site	SNP	G	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:3782450G>C	uc002wjn.3	+	9	1699	c.921_splice	c.e9+1	p.K307_splice	CDC25B_uc010zqk.2_Splice_Site_p.K243_splice|CDC25B_uc010zql.2_Splice_Site_p.K229_splice|CDC25B_uc010zqm.2_Intron|CDC25B_uc002wjl.3_Splice_Site_p.K195_splice|CDC25B_uc002wjm.3_Splice_Site_p.K195_splice|CDC25B_uc021waa.1_Splice_Site_p.K154_splice|CDC25B_uc002wjo.3_Splice_Site_p.K293_splice|CDC25B_uc002wjp.3_Splice_Site_p.K266_splice|CDC25B_uc002wjq.3_Splice_Site_p.K107_splice	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	307					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGAGGAAAAGGTGGGCCTCTG	0.582000														17			16		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360304	72360304	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:72360304G>A	uc009xqg.3	-	1	516	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRF1_uc001jrf.4_Missense_Mutation_p.R119W	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	119	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCCGCATCCCGGGCCACAGCT	0.652000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					2			6		0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419406	49419407	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:49419406_49419407GG>AA	uc003ozg.4	-	5	1369_1370	c.1104_1105CC>TT	c.(1102-1107)gtccgt>gtTTgt	p.R369C		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGCAGTACGGACAATATTAT	0.351000														20			14		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113428	94113428	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:94113428C>T	uc001pet.2	-	3	1331	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	387						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATTCTTCTCTGTCCAGGCC	0.557000														27			22		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100687008	100687008	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:100687008C>T	uc003uxp.1	+	2	12364	c.12311C>T	c.(12310-12312)tCc>tTc	p.S4104F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4104						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)					CGGACCACTTCCTTCCCCACG	0.547000														82			59		0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56819810	56819810	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:56819810C>T	uc002lht.3	+	2	296	c.240C>T	c.(238-240)ttC>ttT	p.F80F	SEC11C_uc010dpo.1_Silent_p.F80F|SEC11C_uc010xej.1_Silent_p.F80F	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	80					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				ACCTCCTGTTCCTCACAAATT	0.448000														31			164		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213767	3213767	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:3213767G>A	uc002fvi.2	+	0	229	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CATCCTTATGGAAACCAAACT	0.537000														47			24		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430008	10430008	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10430008G>A	uc003bvt.3	-	5	1299	c.860C>T	c.(859-861)aCc>aTc	p.T287I	ATP2B2_uc003bvv.3_Missense_Mutation_p.T287I|ATP2B2_uc003bvw.3_Missense_Mutation_p.T287I|ATP2B2_uc010hdp.2_Missense_Mutation_p.T287I|ATP2B2_uc010hdo.3_Missense_Mutation_p.T23I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	287					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.F286Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCAGGAGGGTAAAGATGAT	0.522000														150			115		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154274	50154274	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50154274C>G	uc002poq.3	+	6	752	c.628C>G	c.(628-630)Cca>Gca	p.P210A		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	210	Pro-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ttcccctcccccacccccACC	0.706000														2			2		0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247170	26247170	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:26247170C>T	uc003nhf.3	-	0	36	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G12R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACCGCCTTTCCCAAGGCCTT	0.507000														21			13		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181549	32181549	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:32181549G>A	uc003obb.3	-	13	2375	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	746	EGF-like 19.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGGCTAGGGTTGCAGGAG	0.592000														26			26		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26114749	26114749	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:26114749G>A	uc002gzu.3	-	4	686	c.422C>T	c.(421-423)cCt>cTt	p.P141L	NOS2_uc010crh.1_Missense_Mutation_p.P141L|NOS2_uc010wab.1_Missense_Mutation_p.P141L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	141					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GATAGCTTGAGGTAGAAGCTC	0.522000														80			48		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282555	23282555	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:23282555G>A	uc001wgr.4	-	1	191	c.53C>T	c.(52-54)tCc>tTc	p.S18F	SLC7A7_uc001wgs.4_Missense_Mutation_p.S18F|SLC7A7_uc001wgt.4_Missense_Mutation_p.S18F|SLC7A7_uc001wgu.4_Missense_Mutation_p.S18F|SLC7A7_uc001wgv.4_Missense_Mutation_p.S18F	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	18					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCAAAGGGGAGGTTTCCAC	0.567000														54			36		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987181	215987181	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:215987181G>A	uc001hku.1	-	48	10023	c.9636C>T	c.(9634-9636)atC>atT	p.I3212I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3212					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACAAACGGGATATACTTTT	0.418000										HNSCC(13;0.011)				30			39		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060508	57060508	+	Silent	SNP	C	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:57060508C>G	uc021tiu.1	+	4	1780	c.1653C>G	c.(1651-1653)acC>acG	p.T551T	NLRC5_uc021tit.1_Silent_p.T551T|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.T356T|NLRC5_uc021tiw.1_Silent_p.T356T|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	551					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TACAGCGGACCAAAGCTAGAC	0.612000														11			52		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97981281	97981281	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:97981281C>T	uc001drv.3	-	13	1877	c.1740_splice	c.e13+1	p.K580_splice		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	580					'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)	TATTTTCTTACCTTATCAAGA	0.323000														14			16		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1814708	1814708	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:1814708C>T	uc003wpr.3	+	5	740	c.562C>T	c.(562-564)Cga>Tga	p.R188*	ARHGEF10_uc003wpq.1_Nonsense_Mutation_p.R213*|ARHGEF10_uc003wps.3_Nonsense_Mutation_p.R189*|ARHGEF10_uc003wpt.3_Nonsense_Mutation_p.R103*|ARHGEF10_uc010lrd.2_Nonsense_Mutation_p.R103*|ARHGEF10_uc003wpu.3_Nonsense_Mutation_p.R102*|ARHGEF10_uc022aqp.1_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	213					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTCGGTCGAGAGGACAG	0.557000														94			44		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603637	13603637	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:13603637G>A	uc003gmz.1	-	9	5004	c.4887C>T	c.(4885-4887)gaC>gaT	p.D1629D	BOD1L1_uc010idr.1_Silent_p.D966D	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1629							DNA binding										CAGCCAGTAGGTCTGCTGCTC	0.473000														81			78		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017820	1017820	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:1017820C>T	uc001lsw.2	-	30	5032	c.4981G>A	c.(4981-4983)Gcc>Acc	p.A1661T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1661	Approximate repeats.|Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.A1661T(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCCTGTGGCCTTGAGCGTT	0.567000														621			61		0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15800757	15800757	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:15800757C>T	uc004cxe.3	+	7	1041	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	Homo sapiens carbonic anhydrase VB, mitochondrial (CA5B), nuclear gene encoding mitochondrial protein, mRNA.	308					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					AAGCGAAACCCAAGCCGGCCA	0.433000														10			52		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926698	128926698	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:128926698G>A	uc004euu.3	+	5	869	c.687G>A	c.(685-687)gtG>gtA	p.V229V	SASH3_uc011muo.1_Silent_p.V196V	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	229	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCATCTATGTGGATGTGCTGC	0.587000														1			22		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95605014	95605014	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:95605014G>A	uc001tdp.4	-	1	270	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	16					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAAACTTGGGCTTGGGGGCC	0.388000														30			33		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167683	24167683	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:24167683C>T	uc003xdy.3	+	3	318	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	ADAM28_uc003xdx.3_Missense_Mutation_p.L79F|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	79					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)		CAGGAACCTCCTTGCACCAGG	0.398000														20			22		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196712740	196712740	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:196712740G>A	uc001gtj.4	+	19	3532	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1098	Sushi 18.				complement activation, alternative pathway	extracellular space		p.E1098E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAACTGGACGGAACCACCTCA	0.353000														149			64		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485607	179485607	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179485607C>T	uc021vsy.1	-	195	38251	c.38026G>A	c.(38026-38028)Gaa>Aaa	p.E12676K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6371K|TTN_uc021vta.1_Missense_Mutation_p.E6304K|TTN_uc021vtb.1_Missense_Mutation_p.E6179K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13603							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12676R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCTTCTTCATTTCTGAAC	0.408000														29			18		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401105	10401105	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:10401105C>T	uc002gmo.3	-	30	4405	c.4311G>A	c.(4309-4311)gaG>gaA	p.E1437E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1437						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						CATTTGTCCTCTCAACATCAA	0.438000														81			43		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800729	148800729	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:148800729G>A	uc003wfj.3	-	3	2367	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	745					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCTCTTTGGCATGCACTGC	0.572000														22			17		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802299	43802299	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:43802299G>A	uc002zbb.2	-	8	1028	c.827C>T	c.(826-828)tCc>tTc	p.S276F	TMPRSS3_uc002zay.2_Missense_Mutation_p.S34F|TMPRSS3_uc002zaz.2_Missense_Mutation_p.S149F|TMPRSS3_uc002zba.2_Missense_Mutation_p.S149F|TMPRSS3_uc002zbc.2_Missense_Mutation_p.S276F|TMPRSS3_uc002zbd.3_Missense_Mutation_p.S276F	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	276	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTCCAACAGGGAAACTAGACC	0.502000														34			16		0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999766	145999766	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:145999766G>A	uc003zdy.4	-	5	670	c.568C>T	c.(568-570)Cct>Tct	p.P190S	ZNF34_uc010mgb.3_Missense_Mutation_p.P87S|ZNF34_uc003zdx.4_Missense_Mutation_p.P169S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTCTGATCAGGAACAGGTCTT	0.478000														14			5		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118534	39118534	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39118534C>T	uc002hvo.1	-	4	912	c.876G>A	c.(874-876)gaG>gaA	p.E292E	KRT39_uc010wfm.1_Silent_p.E25E	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	292	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GATTCAGCTCCTCTATCTGAA	0.443000														100			48		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426129	66426129	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:66426129G>A	uc002eom.4	+	6	1216	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	CDH5_uc002eon.1_Missense_Mutation_p.G354R	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	354	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.A353T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTCCCGCGGGAAACAGAGC	0.527000														15			88		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349074	100349074	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:100349074G>A	uc003huv.2	-	4	697	c.456C>T	c.(454-456)ttC>ttT	p.F152F	ADH7_uc021xqj.1_Silent_p.F160F	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	152					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGTGTTCATGAAGTGGTGGA	0.433000														91			71		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320315	80320315	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:80320315G>A	uc002keq.3	+	1	599	c.289G>A	c.(289-291)Gca>Aca	p.A97T	TEX19_uc021ufp.1_Missense_Mutation_p.A97T	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	97						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGCTCTGAGGCATGGGGGCC	0.647000														33			33		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543168	182543168	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:182543168G>A	uc021vto.1	-	0	420	c.420C>T	c.(418-420)atC>atT	p.I140I	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.I140I|NEUROD1_uc021vtn.1_Silent_p.I140I	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	140	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGAGTCTCGATTTTGGACA	0.582000														33			27		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990231	42990231	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:42990231G>A	uc002rss.3	-	0	1171	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	363					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGCTCTGGTGGAGGAAGTTGG	0.657000														16			9		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80654731	80654731	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:80654731A>T	uc002ffs.3	-	3	1041	c.936T>A	c.(934-936)gaT>gaA	p.D312E		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	312						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTAGGAATAATCCAGGCCGC	0.582000														4			27		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148905	34148905	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:34148905C>T	uc004ddg.3	-	0	1543	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	497			Missing.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCGACGAGTCTTGGGAGGCT	0.657000														5			42		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781800	128781800	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:128781800G>A	uc001qet.3	+	1	946	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	KCNJ5_uc009zck.3_Missense_Mutation_p.R211Q|KCNJ5_uc001qew.3_Missense_Mutation_p.R211Q	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	211					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATCTCCATGCGGGACGAGAAG	0.587000														38			31		0	0	1	0	0
PAGE2B	389860	broad.mit.edu	37	X	55116508	55116508	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:55116508G>A	uc004duf.1	+	1	103	c.55G>A	c.(55-57)Gag>Aag	p.E19K	PAGE2B_uc022bxk.1_Intron	NM_207339	NP_997222	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2 (prostate associated) (PAGE2), mRNA.	19										lung(3)	3						AAATGACCAAGAGTCTTCCCA	0.338000														2			29		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883717	57883717	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:57883717C>T	uc001sog.3	+	4	607	c.453C>T	c.(451-453)gcC>gcT	p.A151A	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_Intron	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	151	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGGGAGCCCTATACCCAT	0.478000														98			71		0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487440	139487440	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:139487440C>T	uc003qin.3	+	1	576	c.291C>T	c.(289-291)ccC>ccT	p.P97P		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	97					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTGCCACTCCCCTGATCTGCA	0.532000														95			87		0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447341	3447341	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrY:3447341G>A	uc004fqk.3	+	1	120	c.56G>A	c.(55-57)aGc>aAc	p.S19N	TGIF2LY_uc022ciw.1_Missense_Mutation_p.S19N	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GAAAAAGACAGCCCGGCGAAG	0.512000														4			20		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850845	167850845	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:167850845C>T	uc003lzu.3	+	10	1675	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	WWC1_uc003lzv.3_Missense_Mutation_p.P528S|WWC1_uc011den.2_Missense_Mutation_p.P528S|WWC1_uc003lzw.3_Missense_Mutation_p.P327S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	528					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTCTGGCACCCCAAAGTCCAT	0.637000														24			24		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077173	27077173	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:27077173G>A	uc001mre.1	+	2	564	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	BBOX1_uc009yih.1_Missense_Mutation_p.G66S|BBOX1_uc001mrg.1_Missense_Mutation_p.G66S|BBOX1_uc021qfd.1_Missense_Mutation_p.G66S	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	66					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGGAATTAAAGGCTTGATATT	0.378000														10			6		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019754	56019754	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56019754G>A	uc010rjd.2	+	0	79	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCAGGTTTGGATATATACAG	0.358000														27			19		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	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					36			26		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045744	142045744	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142045744C>T	uc003vxp.4	+	1	381	c.272C>T	c.(271-273)tCt>tTt	p.S91F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCAACAGCTCTCACTTATTC	0.507000														115			83		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520881	131520881	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:131520881C>T	uc021voy.1	+	0	1236	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	FAM123C_uc002trw.2_Silent_p.F412F|FAM123C_uc010fmv.2_Silent_p.F412F|FAM123C_uc010fms.1_Silent_p.F412F|FAM123C_uc010fmt.1_Silent_p.F412F|FAM123C_uc010fmu.1_Silent_p.F412F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	412										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCGCCACCTTCCCACGGGACA	0.617000														22			23		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585177	1585177	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:1585177C>T	uc022brv.1	-	0	275	c.275G>A	c.(274-276)gGg>gAg	p.G92E	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.G92E	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	92						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGCAGCACCCCGAATACCCA	0.547000			T	CRLF2	"""B-ALL, Downs associated ALL"""									36			24		0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855302	28855302	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:28855302G>A	uc002drh.2	-	7	1182	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_Non-coding_Transcript|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	345						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGGCTTGATGGAACCTGGCTT	0.677000														21			14		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996515	143996515	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143996515C>T	uc003yxk.1	-	2	545	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	181			R -> W (in CMO-2 deficiency; reduces 18- hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact; dbSNP:rs28931609).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGGCTCCCCCGGGCGTTCTG	0.647000									Familial Hyperaldosteronism type I					19			5		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665876	25665876	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:25665876G>A	uc003grr.3	+	3	384	c.303G>A	c.(301-303)ttG>ttA	p.L101L	SLC34A2_uc003grs.3_Silent_p.L100L|SLC34A2_uc010iev.3_Silent_p.L100L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	101					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)				TTGGGAGATTGATTTTACTTC	0.478000			T	ROS1	NSCLC									63			45		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46627847	46627847	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:46627847C>T	uc003bhb.1	+	5	993	c.870C>T	c.(868-870)ttC>ttT	p.F290F	PPARA_uc003bgw.1_Silent_p.F290F|PPARA_uc003bgx.1_Silent_p.F290F|PPARA_uc010hab.1_Silent_p.F290F|PPARA_uc010hac.1_Silent_p.F87F	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	290	Ligand-binding.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACGGAATTCGCCAAGGCCA	0.542000														25			32		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101065073	101065073	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:101065073G>A	uc003yjb.1	-	9	1841	c.1646C>T	c.(1645-1647)cCa>cTa	p.P549L	RGS22_uc003yja.1_Missense_Mutation_p.P368L|RGS22_uc003yjc.1_Missense_Mutation_p.P537L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.P453L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	549					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGGTCTTAATGGCAAGAGGGT	0.413000														69			51		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058703	79058703	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:79058703G>A	uc002bej.4	-	18	3761	c.3550C>T	c.(3550-3552)Ctg>Ttg	p.L1184L	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1184					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTGTCTGCAGGCCATCAGTG	0.602000														14			13		0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419147	10419147	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:10419147G>A	uc002mnw.4	-	0	1087	c.211C>T	c.(211-213)Cct>Tct	p.P71S	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	71					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TCCTGGGCAGGGGACTGACCC	0.672000														7			9		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200881061	200881061	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:200881061C>T	uc001gvo.3	+	8	1737	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	C1orf106_uc010ppm.2_Silent_p.I480I	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	565										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCAGCCGCATCGTGCGGACGC	0.736000														5			6		0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12545048	12545048	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:12545048G>A	uc003bxc.3	+	4	983	c.596G>A	c.(595-597)tGc>tAc	p.C199Y	TSEN2_uc003bwz.3_Intron|TSEN2_uc003bxa.3_Missense_Mutation_p.C199Y|TSEN2_uc011auq.1_Missense_Mutation_p.C199Y|TSEN2_uc003bxb.3_Missense_Mutation_p.C199Y|TSEN2_uc011aur.1_Missense_Mutation_p.C108Y	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	199					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGCTCTGGCTGCCACCCAACA	0.577000														20			11		0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966458	54966458	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:54966458C>T	uc002ehv.3	+	1	298	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	IRX5_uc010cca.1_Missense_Mutation_p.H152Y|IRX5_uc021tin.1_Missense_Mutation_p.H100Y|IRX5_uc002ehw.3_Missense_Mutation_p.H34Y	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	100					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CTTGGGGTACCATCCTTACGC	0.657000														11			22		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823387	70823387	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:70823387G>A	uc003hes.4	-	4	293	c.280C>T	c.(280-282)Cct>Tct	p.P94S	CSN2_uc003het.4_Missense_Mutation_p.P93S	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	94					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAGGCTGAGGGACAGGCAGC	0.473000														69			53		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132162210	132162210	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:132162210C>T	uc011mvf.2	-	0	91	c.39G>A	c.(37-39)ggG>ggA	p.G13G	USP26_uc010nrm.1_Silent_p.G13G	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	13					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTGCAGTTCCCTATTTGGA	0.358000														2			27		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67579881	67579881	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:67579881G>A	uc001xiy.3	+	14	2641	c.1520G>A	c.(1519-1521)gGg>gAg	p.G507E	GPHN_uc001xix.3_Missense_Mutation_p.G540E|GPHN_uc010tss.2_Missense_Mutation_p.G553E|GPHN_uc010tst.2_Missense_Mutation_p.G476E|GPHN_uc010tsu.2_Missense_Mutation_p.G430E	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	507	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGTCAACAGGGAATGAGGTA	0.428000			T	MLL	AL									57			23		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418350	74418350	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:74418350G>A	uc003dpm.1	-	6	1016	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	312	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R311C(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATAGTAAGTGAGACGCCCTC	0.413000														22			8		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055435	75055435	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:75055435C>T	uc001dgg.3	-	11	2275	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E480K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	686	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						CCGGACTTCTCAGATAAACCC	0.443000														53			28		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025193	50025194	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:50025193_50025194CC>TT	uc001rur.1	+	1	91_92	c.28_29CC>TT	c.(28-30)cca>TTa	p.P10L	PRPF40B_uc001rup.1_Missense_Mutation_p.P32L|PRPF40B_uc001ruq.1_Missense_Mutation_p.P4L|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	10	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GATGCCCCCTCCAGGGATCCCC	0.579000														113			93		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600560	31600560	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:31600560C>T	uc003akb.3	+	6	767	c.567C>T	c.(565-567)ctC>ctT	p.L189L	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Silent_p.L127L|RNF185_uc003akc.3_Silent_p.L127L|RNF185_uc003ake.3_Silent_p.L133L	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	189						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGTTCTGGCTCCTGATTGCCT	0.567000														38			31		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122780197	122780197	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:122780197G>A	uc003ied.3	-	4	662	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	BBS7_uc003iee.2_Missense_Mutation_p.R160C	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	160					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTGTGATACGAGATAATCTT	0.348000									Bardet-Biedl syndrome					116			104		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912814	159912814	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159912814G>A	uc001fur.2	-	2	384	c.186C>T	c.(184-186)ttC>ttT	p.F62F	IGSF9_uc001fuq.2_Silent_p.F62F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	62	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGAAGCAGGAATCCAAAGC	0.627000														44			42		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98834468	98834468	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:98834468C>T	uc002syo.3	+	13	2260	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S	VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.P185S|VWA3B_uc002sym.3_Missense_Mutation_p.P666S|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.P323S|VWA3B_uc002syp.1_Missense_Mutation_p.P58S|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	666	VWFA.							p.D665H(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGCAAGGATCCCACTCCCCC	0.453000														35			20		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180047230	180047230	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:180047230C>T	uc003mlz.4	-	16	2564	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	FLT4_uc003mma.4_Missense_Mutation_p.E829K|FLT4_uc003mmb.1_Missense_Mutation_p.E362K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	829					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)	GACAGGTATTCGCATTGCTCC	0.662000														86			69		0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140432985	140432985	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:140432985G>A	uc003ihw.3	-	7	1219	c.933C>T	c.(931-933)ccC>ccT	p.P311P		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	311	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GCCCAAAACGGGGGTGGACAA	0.577000														56			54		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876707	139876707	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:139876707G>A	uc003lfs.2	+	14	3002	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.E969K|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.E950K|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.E430K|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	950						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTCTTGAACTTCAGAA	0.428000														110			79		0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88998008	88998008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:88998008C>T	uc002ste.3	+	1	333	c.292C>T	c.(292-294)Caa>Taa	p.Q98*		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	98					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCAGAATAACCAAGTGCTGGG	0.373000														82			59		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164572	12164572	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12164572G>A	uc001atq.3	+	3	627	c.405G>A	c.(403-405)atG>atA	p.M135I	TNFRSF8_uc010obc.2_Missense_Mutation_p.M24I	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	135					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGGATGATTGTCAAGT	0.572000														21			36		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181164	19181164	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:19181164C>T	uc001bba.1	-	2	801	c.800G>A	c.(799-801)aGc>aAc	p.S267N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	267					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCGCGCTGTGCTCTGCTGCAG	0.622000														14			8		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518701	113518701	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:113518701C>T	uc010ljy.1	-	3	2477	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	816					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTCCATTTCATCTACACGT	0.373000														39			28		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18370137	18370137	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:18370137G>A	uc002zng.4	-	13	2309	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	MICAL3_uc011agl.2_Silent_p.S652S|MICAL3_uc002znh.2_Silent_p.S652S|MICAL3_uc002znj.1_Silent_p.S352S|MICAL3_uc002znk.1_Silent_p.S652S|MICAL3_uc002znl.1_Silent_p.S285S|MICAL3_uc002znm.3_Silent_p.S153S|MICAL3_uc010grf.3_Silent_p.S652S	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	652						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGCTTAGGAAGGAGATAGGGG	0.507000														19			17		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63679776	63679776	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:63679776G>A	uc011kdn.2	+	3	347	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGAACATATGGAAAATGTGGA	0.338000														48			16		0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327755	48327755	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:48327755C>T	uc010dpa.3	-	4	740	c.591G>A	c.(589-591)ctG>ctA	p.L197L	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Silent_p.L183L|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Silent_p.L183L	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	183						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GTAAATGGATCAGGAGGGAAT	0.468000														17			140		0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19776423	19776423	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:19776423G>A	uc002zqf.1	-	7	1030	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	265					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGGATCTTGCGATCTGGCCGG	0.642000														41			34		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866215	235866216	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:235866215_235866216GG>AA	uc001hxj.2	-	44	10380_10381	c.10205_10206CC>TT	c.(10204-10206)acc>aTT	p.T3402I	LYST_uc001hxi.2_Missense_Mutation_p.T626I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3402	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTATCATGGTTTCTAGCGC	0.475000														121			135		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50330995	50330995	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:50330995T>A	uc001zxu.3	-	5	474	c.332A>T	c.(331-333)aAt>aTt	p.N111I	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	111					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGACTGCCGATTATTCACTTG	0.398000														45			28		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603749	179603749	+	Silent	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:179603749A>T	uc010pnp.2	+	7	1802	c.1284A>T	c.(1282-1284)gtA>gtT	p.V428V	TDRD5_uc021pfm.1_Silent_p.V428V|TDRD5_uc001gnf.2_Silent_p.V428V|TDRD5_uc021pfn.1_Silent_p.V428V|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	428					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.V427V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCTGGTGGTAAAGCCTTTAC	0.383000														46			64		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566602	20566602	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20566602C>T	uc002dhj.4	-	4	795	c.585G>A	c.(583-585)aaG>aaA	p.K195K	ACSM2B_uc002dhk.4_Silent_p.K195K|ACSM2B_uc010bwf.1_Silent_p.K195K	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.	195					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAGTAGTTTCTTGAAGTTCA	0.438000														122			76		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604406	40604406	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:40604406G>A	uc002yxk.2	-	23	3080	c.2785C>T	c.(2785-2787)Cca>Tca	p.P929S	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.P929S	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	929					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGCTCTGCTGGAGTCATCCTC	0.398000														40			45		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786761	60786761	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:60786761G>A	uc001nqq.3	+	12	2203	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.D593N|CD6_uc001nqt.3_Missense_Mutation_p.D584N	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	660					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CACCGACAACGATGACTACGA	0.652000														23			23		0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114793	71114793	+	Missense_Mutation	SNP	C	T	T	rs150281469	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:71114793C>T	uc003hfe.4	+	3	224	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	56						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATAGCTATCCTTATTATGG	0.368000														86			56		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64895939	64895939	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64895939T>C	uc001odb.3	-	15	1863	c.1769A>G	c.(1768-1770)gAg>gGg	p.E590G	SYVN1_uc001odc.3_Missense_Mutation_p.E589G|SYVN1_uc009yqc.3_Missense_Mutation_p.E538G	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	590					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGGCATCTCCTCTGTGCCCAC	0.632000														30			35		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113225	160113225	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:160113225C>T	uc003lym.1	-	5	1178	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ATP10B_uc003lyp.2_Missense_Mutation_p.E111K|ATP10B_uc011deg.1_Missense_Mutation_p.E155K|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	111					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAGACTTCCATGGAGGGC	0.463000														26			15		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954046	21954046	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:21954046C>T	uc001rfh.3	-	37	4602	c.4582G>A	c.(4582-4584)Gac>Aac	p.D1528N		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1528	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGGAGTGTCATATTCTAAA	0.378000														25			32		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183010	167183010	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:167183010C>T	uc003fes.1	-	4	951	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	SERPINI2_uc003fer.1_Missense_Mutation_p.E284K|SERPINI2_uc003fet.1_Missense_Mutation_p.E284K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	284					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGGCTTATTTCTACTTCCTCT	0.378000														27			25		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143485	18143485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:18143485G>A	uc021wbb.1	+	5	2004	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	CSRP2BP_uc002wqk.3_Missense_Mutation_p.D395N|CSRP2BP_uc010zru.2_Missense_Mutation_p.D394N	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	523					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTGTTAGTTGACGGGATTTA	0.448000														56			41		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081811	17081811	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:17081811C>T	uc002nfb.3	-	17	2276	c.2244G>A	c.(2242-2244)gtG>gtA	p.V748V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	701						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTTCAGGCTCACTCGGTCGG	0.617000														58			35		0	0	1	0	0
CCDC43	124808	broad.mit.edu	37	17	42759406	42759406	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:42759406G>A	uc002ihc.2	-	2	437	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CCDC43_uc021tye.1_5'Flank|CCDC43_uc010czw.1_Silent_p.L131L	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	Homo sapiens coiled-coil domain containing 43 (CCDC43), transcript variant 1, mRNA.	131										lung(2)	2		Prostate(33;0.0322)				ACTGGGCCAGGAGGGCAGCTT	0.478000														92			54		0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168587	74168587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:74168587C>T	uc021qng.1	-	0	22	c.22G>A	c.(22-24)Gag>Aag	p.E8K	KCNE3_uc001ovc.3_Missense_Mutation_p.E8K|KCNE3_uc001ovd.2_Missense_Mutation_p.E8K	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	8						integral to membrane	voltage-gated potassium channel activity	p.T7M(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TACCAGGTCTCCGTTCCATTG	0.557000														55			31		0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21461940	21461940	+	Missense_Mutation	SNP	G	A	A	rs137972597	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:21461940G>A	uc010iub.3	+	2	220	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	GUSBP1_uc011cnn.1_Non-coding_Transcript|GUSBP1_uc003jgh.4_Non-coding_Transcript|GUSBP1_uc003jgf.3_Missense_Mutation_p.R47Q|GUSBP1_uc003jgg.4_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 1 (GUSBP1), transcript variant 3, non-coding RNA.																		GAACAAACTCGAAGAACAGCT	0.368000														34			27		0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42936056	42936056	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:42936056G>A	uc002rso.1	+	14	1844	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	MTA3_uc002rsp.1_Missense_Mutation_p.G392R|MTA3_uc002rsq.3_Missense_Mutation_p.G449R|MTA3_uc021vgm.1_Missense_Mutation_p.G137R	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	449						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GGCCATGCAGGGAATGCCAGT	0.478000														142			67		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570095	248570095	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:248570095C>T	uc010pzm.2	+	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	267					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)			GTCCTTGCTTCCTATGCCCGA	0.507000														42			53		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748473	30748473	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:30748473C>T	uc002dze.1	+	33	7497	c.7112C>T	c.(7111-7113)tCc>tTc	p.S2371F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2166F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2371					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGAGTTCCTGTGGGACT	0.652000														20			15		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154092519	154092519	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:154092519C>T	uc003lvo.3	+	0	58	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	276							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGAGGCCTCCTTTCCCTCA	0.587000														44			23		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925201	66925201	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:66925201C>T	uc002jhq.3	-	8	1454	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	ABCA8_uc002jhp.3_Missense_Mutation_p.G372R|ABCA8_uc010wqq.2_Missense_Mutation_p.G372R|ABCA8_uc010wqr.2_Missense_Mutation_p.G311R|ABCA8_uc002jhr.3_Missense_Mutation_p.G372R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	372						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)					TGGGCCATTCCAAGCATGAAG	0.458000														43			24		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552737	39552737	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39552737C>T	uc002hwn.3	-	2	576	c.523G>A	c.(523-525)Gac>Aac	p.D175N	KRT31_uc010cxn.3_Missense_Mutation_p.D175N	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	175	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCCTCCAGGTCGGACTTGCAC	0.587000														53			51		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908336	166908336	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166908336G>A	uc002udo.4	-	7	1084	c.857C>T	c.(856-858)tCc>tTc	p.S286F	SCN1A_uc010fpk.3_Missense_Mutation_p.S286F|SCN1A_uc021vsb.1_Missense_Mutation_p.S286F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	286						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)	TTCCTCCAAGGAAGCATTGGT	0.383000														23			30		0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123116922	123116922	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:123116922C>T	uc003pzg.3	+	1	734	c.213C>T	c.(211-213)tcC>tcT	p.S71S	SMPDL3A_uc003pzh.3_Intron	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA.	71					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CAAATGCCTCCAACCCTGGCC	0.398000														33			16		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508460	102508460	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:102508460C>T	uc001yks.2	+	66	12378	c.12214_splice	c.e66+1	p.G4072_splice		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4072	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAATTGCAATCGGTAAGGATG	0.537000														26			23		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82074822	82074822	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:82074822G>A	uc003hmh.2	-	5	979	c.966C>T	c.(964-966)acC>acT	p.T322T	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.T322T	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	322					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAATGAAAAAGGTACTTCCTT	0.348000														32			26		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345319	53345319	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:53345319G>A	uc001sbe.3	+	4	781	c.712G>A	c.(712-714)Gat>Aat	p.D238N	KRT18_uc009zmn.2_Missense_Mutation_p.D238N|KRT18_uc001sbg.3_Missense_Mutation_p.D238N|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	238	Linker 12.|Necessary for interaction with PNN.|Rod.	Cleavage; by caspase-3, caspase-6 or caspase-7.			Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CGTGGAGGTAGATGCCCCCAA	0.552000														23			33		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284646	52284646	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:52284646G>A	uc001rzd.3	+	4	1094	c.916G>A	c.(916-918)Gac>Aac	p.D306N	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.D181N|ANKRD33_uc001rze.3_Missense_Mutation_p.D202N|ANKRD33_uc001rzg.4_Missense_Mutation_p.D108N|ANKRD33_uc001rzi.4_Missense_Mutation_p.D181N	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	181										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGTGTTCTGGACCACCTTGT	0.652000														18			13		0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867661	52867661	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:52867661G>A	uc003dgc.4	-	8	1115	c.984C>T	c.(982-984)tcC>tcT	p.S328S	ITIH4_uc011bem.2_5'Flank|ITIH4_uc003dfz.3_5'Flank|ITIH4_uc011ben.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|ITIH4_uc010hmq.1_Non-coding_Transcript|TMEM110-MUSTN1_uc003dga.4_Silent_p.S38S|TMEM110-MUSTN1_uc003dgb.4_Silent_p.S38S	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		GGTAGGTCTTGGACTTGATTT	0.602000														5			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675152	100675152	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:100675152C>T	uc003uxp.1	+	2	508	c.455C>T	c.(454-456)cCa>cTa	p.P152L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	152	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)					ATGTCAACACCAAGTGAAGAA	0.453000														84			70		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411669	85411669	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:85411669G>A	uc002ble.3	+	13	5873	c.5706G>A	c.(5704-5706)aaG>aaA	p.K1902K	ALPK3_uc010upc.2_Silent_p.K203K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1902					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGCTCCAAGGCCCAGGGCA	0.617000														18			15		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31560469	31560469	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:31560469G>A	uc003nuv.2	-	0	294	c.30C>T	c.(28-30)atC>atT	p.I10I	NCR3_uc003nuw.2_Silent_p.I10I|NCR3_uc003nux.1_Silent_p.I10I	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	10					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GATGGACCATGATCAAGATGA	0.587000														50			31		0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30325845	30325845	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:30325845C>T	uc002hgs.2	+	15	2265	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	SUZ12_uc002hgt.2_Silent_p.L658L	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	681					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTACCAAGCTCCGTGAAATGC	0.358000			T	JAZF1	endometrial stromal tumours									17			15		0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122591385	122591385	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:122591385C>T	uc003efw.4	+	7	1401	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Missense_Mutation_p.T259I	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	421					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGAGTTGTCACTTTTTTAAGT	0.323000														20			22		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768322	38768323	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:38768322_38768323GG>AA	uc003ciq.3	-	15	2861_2862	c.2861_2862CC>TT	c.(2860-2862)tcc>tTT	p.S954F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	954					sensory perception	voltage-gated sodium channel complex		p.L953L(1)		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)	CCTTGGAGCTGGAGAGTGGGAG	0.604000														30			24		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	225635	225635	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:225635C>T	uc011clv.1	+	3	529	c.414C>T	c.(412-414)gcC>gcT	p.A138A	SDHA_uc003jao.4_Silent_p.A138A|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	138					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACCAGGATGCCATCCACTACA	0.592000									Familial Paragangliomas					51			30		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141776	29141776	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29141776G>A	uc011dlm.2	+	0	466	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GATGTCATATGATCGTTATGT	0.463000														204			96		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262123	45262123	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:45262123G>A	uc003jok.3	-	7	2598	c.2573C>T	c.(2572-2574)cCa>cTa	p.P858L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	858	Poly-Pro.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGGGGTGCTGGAGGGACTCC	0.587000														53			56		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720727	7720727	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7720727C>T	uc002giu.1	+	63	10028	c.10014C>T	c.(10012-10014)atC>atT	p.I3338I	DNAH2_uc010cnm.1_Silent_p.I276I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3338					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAATCTGGATCGGGAAGGTGA	0.577000														50			39		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165328	18165328	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:18165328C>T	uc021wbb.1	+	8	2504	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	CSRP2BP_uc002wqk.3_Silent_p.F561F|CSRP2BP_uc010zru.2_Silent_p.F560F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	689	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCTTTGGCTTCATGGTTCCTG	0.398000														34			35		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949315	89949315	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:89949315C>T	uc003kju.3	+	19	4020	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1308					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)		TTGGAATTTTCCCCACCACCG	0.483000														24			14		0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125539746	125539746	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:125539746C>T	uc001lhk.1	-	6	1240	c.915G>A	c.(913-915)cgG>cgA	p.R305R	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R305L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCATCTCGTTCCGGCGGTGAT	0.438000														11			45		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832766	45832766	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:45832766G>A	uc001nbp.3	+	1	1687	c.975G>A	c.(973-975)acG>acA	p.T325T	SLC35C1_uc001nbo.3_Silent_p.T312T|SLC35C1_uc010rgm.2_Silent_p.T312T	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	325						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCTGGTGGACGAGCAACATGA	0.632000														16			15		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98834465	98834465	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:98834465G>A	uc002syo.3	+	13	2257	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N	VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.D184N|VWA3B_uc002sym.3_Missense_Mutation_p.D665N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.D322N|VWA3B_uc002syp.1_Missense_Mutation_p.D57N|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	665	VWFA.							p.D665H(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGTTGCAAGGATCCCACTCC	0.453000														33			20		0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47983154	47983154	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:47983154G>A	uc002pgy.3	-	7	857	c.753C>T	c.(751-753)tcC>tcT	p.S251S	KPTN_uc010xys.2_Non-coding_Transcript	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	251					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAATCACTCGGGAGATGGGAC	0.642000														21			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870886	13870886	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13870886C>T	uc003jfd.2	-	23	3866	c.3824G>A	c.(3823-3825)gGa>gAa	p.G1275E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCAATAGGTCCTACTTGAAA	0.368000									Kartagener syndrome					14			17		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883675	150883675	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:150883675C>T	uc003wjm.1	-	1	649	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	ASB10_uc003wjl.1_Missense_Mutation_p.E130K|ASB10_uc003wjn.1_Missense_Mutation_p.E115K	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	130					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCAGGACTTCCGTGTGGCCA	0.677000														10			4		0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102292727	102292727	+	Silent	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:102292727A>T	uc010usj.2	+	3	374	c.315A>T	c.(313-315)ggA>ggT	p.G105G	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GGGAACAAGGAGACACTCCTG	0.582000														17			18		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871276	51871276	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:51871276G>A	uc002xwo.3	+	1	2166	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	TSHZ2_uc021wex.1_Missense_Mutation_p.E424K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	427					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTTAGCAGTGGAGAAAATGCA	0.512000														108			71		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2154633	2154633	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:2154633C>A	uc002cos.1	-	21	8236	c.8027G>T	c.(8026-8028)aGg>aTg	p.R2676M	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R2676M|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2676	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TACGAGCTCCCTGCTGGGCCC	0.677000														12			4		1.12685e-05	1.13362e-05	1	1	0
MAP3K5	4217	broad.mit.edu	37	6	136904796	136904796	+	Missense_Mutation	SNP	C	T	T	rs78303756		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:136904796C>T	uc003qhc.3	-	23	3669	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	MAP3K5_uc011edj.2_Missense_Mutation_p.R350Q|MAP3K5_uc011edk.1_Missense_Mutation_p.R949Q	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1103					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TATGATTTTTCGGTCAGTGGA	0.453000														42			46		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948769	69948769	+	Silent	SNP	C	T	T	rs151242284		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:69948769C>T	uc001jnm.4	+	13	2996	c.2811C>T	c.(2809-2811)atC>atT	p.I937I	MYPN_uc001jnn.4_Silent_p.I662I|MYPN_uc001jno.4_Silent_p.I937I|MYPN_uc009xpt.3_Silent_p.I937I|MYPN_uc010qit.2_Silent_p.I643I|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	937						nucleus|sarcomere	actin binding	p.I937I(2)|p.I937N(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATGATGAGATCCCCACGGGCA	0.438000														1			31		0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290271	57290271	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:57290271C>T	uc010zzs.1	+	11	1556	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	NPEPL1_uc010zzr.2_Silent_p.F439F|NPEPL1_uc010gjo.2_Silent_p.F459F|NPEPL1_uc002xzp.3_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	487					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGCGCTCTTCGGCCGTGCCT	0.662000														9			7		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031503	87031503	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:87031503G>A	uc009wcs.3	+	5	798	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	CLCA4_uc009wct.3_Missense_Mutation_p.E15K|CLCA4_uc009wcu.3_Missense_Mutation_p.E72K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCA	0.269000														15			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066520	9066520	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9066520G>A	uc002mkp.3	-	2	21130	c.20926C>T	c.(20926-20928)Ccc>Tcc	p.P6976S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6978	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACCAGTGGGGACTTCTGAA	0.483000														56			51		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39670283	39670283	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39670283C>T	uc002hwy.3	-	7	1554	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	KRT15_uc002hwz.3_Missense_Mutation_p.E357K|KRT15_uc002hxa.3_Missense_Mutation_p.E290K|KRT15_uc002hxb.1_3'UTR	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	455	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTTAGATTTCTCTCTTGTGG	0.517000														61			47		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275189	150275189	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:150275189C>T	uc021yfx.1	-	6	2088	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R	ZNF300_uc021yfy.1_Missense_Mutation_p.G538R|ZNF300_uc021yfz.1_Missense_Mutation_p.G502R	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGGTGTCCCGGAAGGTGG	0.428000														31			25		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962946	2962946	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:2962946G>A	uc003smv.3	-	15	2296	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	654					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R653W(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCCCACAGAGGTGACCGAAG	0.647000			Mis		DLBCL									30			24		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796226	2796226	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:2796226C>T	uc022aqr.1	-	69	10966	c.10576G>A	c.(10576-10578)Gaa>Aaa	p.E3526K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2841K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1418K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3527						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)		TTGCTGTTTTCATGCCCAGCA	0.403000														11			6		0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1467007	1467007	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:1467007G>A	uc001ltm.3	+	11	1487	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	BRSK2_uc009ycv.1_Missense_Mutation_p.D366N|BRSK2_uc001lth.1_Missense_Mutation_p.D366N|BRSK2_uc001lti.3_Missense_Mutation_p.D366N|BRSK2_uc001ltl.3_Missense_Mutation_p.D366N|BRSK2_uc001ltj.3_Missense_Mutation_p.D366N|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	366					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)		GAAGCGTGTGGACTCCCCGAT	0.716000														51			34		0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619212	1619212	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:1619212G>A	uc001ltv.3	-	0	313	c.269C>T	c.(268-270)tCc>tTc	p.S90F	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Silent_p.R104R|LOC338651_uc001ltt.1_Non-coding_Transcript	NM_001004325	NP_001004325	Q701N4	KRA52_HUMAN	Homo sapiens keratin associated protein 5-2 (KRTAP5-2), mRNA.	90	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACAGGAGCCACAGCC	0.657000														192			65		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:65527679C>T	uc003xvj.2	-	3	1165	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)|p.E321G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000														49			28		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27065145	27065145	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:27065145C>T	uc002hcp.3	+	7	1104	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	368						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGCAGTCTCCTTCCTGGGG	0.672000														8			6		0	0	1	0	0
MS4A8B	83661	broad.mit.edu	37	11	60468341	60468341	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:60468341C>T	uc001npv.3	+	1	211	c.8C>T	c.(7-9)tCg>tTg	p.S3L	MS4A8B_uc009yne.1_Missense_Mutation_p.S3L	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	3						integral to membrane	receptor activity	p.S3L(4)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCATGAATTCGATGACTTCA	0.458000														88			74		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729818	37729818	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:37729818A>T	uc003xkm.2	-	3	2558	c.2502T>A	c.(2500-2502)tgT>tgA	p.C834*	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Nonsense_Mutation_p.C163*|RAB11FIP1_uc003xko.1_Nonsense_Mutation_p.C163*|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	834					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTCCTGGGGACAACTGCTGT	0.572000														36			41		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480849	27480849	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:27480849C>T	uc002dov.2	-	31	4877	c.4837G>A	c.(4837-4839)Gag>Aag	p.E1613K	GTF3C1_uc002dou.3_Missense_Mutation_p.E1613K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1613	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGTCATCCTCCAGGCTGCCG	0.587000														70			54		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905117	153905117	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:153905117C>T	uc001fdd.1	-	23	4160	c.3759_splice	c.e23+1	p.G1253_splice		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1253										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCCTTACCCCCATGTGC	0.632000														39			35		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61043208	61043208	+	Splice_Site	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:61043208C>T	uc010qif.1	-	6	640	c.574_splice	c.e6-1	p.E192_splice	FAM13C_uc010qid.2_Splice_Site_p.E87_splice|FAM13C_uc001jkn.3_Splice_Site_p.E170_splice|FAM13C_uc001jko.3_Splice_Site_p.E170_splice|FAM13C_uc010qie.2_Splice_Site_p.E87_splice|FAM13C_uc001jkp.3_Splice_Site_p.E87_splice	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	170										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						CAGCTTCTTCCTGGTTTGTTA	0.522000														9			46		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633531	70633531	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:70633531C>T	uc001xly.3	-	1	2363	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	SLC8A3_uc001xlw.3_Missense_Mutation_p.D537N|SLC8A3_uc001xlx.3_Missense_Mutation_p.D537N|SLC8A3_uc001xlz.3_Missense_Mutation_p.D537N|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	537	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAATAGTATCACATTCAAAA	0.507000														17			21		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584465	30584465	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:30584465G>A	uc002wxe.3	+	2	1119	c.945G>A	c.(943-945)ctG>ctA	p.L315L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	315						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCGCGGCCTGGCCTTCGCGC	0.642000														28			11		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61946769	61946769	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:61946769C>T	uc011aau.2	+	19	2602	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	COL20A1_uc011aav.2_Silent_p.L655L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	834					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCAGCCCTCCGCCCTGACG	0.697000														8			4		0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99365508	99365508	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:99365508G>A	uc003ppf.1	-	3	958	c.600C>T	c.(598-600)ttC>ttT	p.F200F	FBXL4_uc003ppg.1_Silent_p.F200F|FBXL4_uc003pph.1_Intron	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	200					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GATTTGTGGGGAAATTTATCT	0.413000														69			28		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105464438	105464438	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:105464438G>A	uc001tlc.3	-	2	465	c.338C>T	c.(337-339)cCc>cTc	p.P113L	ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATATCCATGGGAATGAACTG	0.478000														37			20		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893258	36893258	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:36893258G>A	uc003cgj.3	-	13	4955	c.4707C>T	c.(4705-4707)ggC>ggT	p.G1569G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1569					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						CAAATTCTAAGCCTTTTGCTT	0.363000														6			6		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22151497	22151497	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:22151497G>A	uc010vbq.2	+	22	2411	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	VWA3A_uc010bxd.3_Non-coding_Transcript	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	772						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACCCTGACAGAGAGAAGAGC	0.522000														24			8		0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125618496	125618496	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:125618496G>A	uc001qct.3	+	5	260	c.248_splice	c.e5-1	p.R83_splice	PATE1_uc009zbr.3_Splice_Site_p.R71_splice	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	Homo sapiens prostate and testis expressed 1 (PATE1), mRNA.	83						extracellular region				large_intestine(1)|lung(5)	6						CCTCCACAGGGGATGGTAATC	0.448000														28			21		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99017671	99017671	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:99017671C>T	uc001vnh.3	+	3	538	c.299C>T	c.(298-300)cCc>cTc	p.P100L	FARP1_uc001vnj.3_Missense_Mutation_p.P100L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	100	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCCTAAAACCCATTGTGAAA	0.368000														44			21		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957300	50957300	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50957300G>A	uc002psf.2	+	16	1824	c.1773G>A	c.(1771-1773)agG>agA	p.R591R		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	591	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGAGGGCAGGACCCGCATCG	0.627000														10			7		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251219	104251219	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:104251219C>T	uc001yof.1	-	2	473	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	64					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.E64*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGAAGATGTTCGTACATCATA	0.398000														35			30		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292267	53292267	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:53292267C>T	uc009zmk.1	-	7	1343	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	KRT8_uc001sbd.2_Silent_p.T413T|KRT8_uc009zml.1_Silent_p.T413T|KRT8_uc009zmm.1_Silent_p.T413T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGGTCTTCGTATGAATAC	0.617000														10			9		0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2381097	2381097	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:2381097G>A	uc002fut.3	-	2	359	c.211C>T	c.(211-213)Cca>Tca	p.P71S	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Missense_Mutation_p.P71S|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_5'UTR	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	71							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCTCCAATGGAATATCAATA	0.423000														55			41		0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74402747	74402747	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:74402747C>T	uc001xpd.2	-	7	2098	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGCCTGCTTCAGGGTGTCTA	0.453000														73			56		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617189	100617189	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:100617189G>A	uc010nno.2	-	6	895	c.662C>T	c.(661-663)cCt>cTt	p.P221L	BTK_uc004ehg.2_Missense_Mutation_p.P187L|BTK_uc010nnn.2_Missense_Mutation_p.P187L|BTK_uc004ehi.3_Missense_Mutation_p.P187L	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	187	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGGGGAAGAGGCTTTTTTGT	0.488000									Agammaglobulinemia, X-linked					4			37		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55322128T>G	uc010rig.2	+	0	346	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L116V(2)|p.L116F(1)|p.F115L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTACTTCTTCTTGGGCTTCCT	0.448000										HNSCC(20;0.049)				67			66		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926536	1926536	+	Silent	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:1926536G>A	uc002qxe.3	-	9	1832	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	MYT1L_uc002qxd.3_Silent_p.F335F|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	335					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCCAGGTCGAAGCACTGAT	0.562000														37			29		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151508776	151508776	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:151508776C>T	uc009wmw.3	+	18	3405	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I	CGN_uc010pde.2_Silent_p.I81I	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	1081						myosin complex|tight junction	actin binding|motor activity	p.S1086F(1)		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)			AACTATCCATCCAGATTGAAG	0.478000														39			52		0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41832725	41832725	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:41832725C>T	uc002iec.1	-	1	674	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	Homo sapiens sclerostin (SOST), mRNA.	209					Wnt receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		AGGCGTTCTCCAGCTCGGCCT	0.726000														19			15		0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98250908	98250908	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98250908G>A	uc011bgy.2	+	0	31	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	11						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AGTTTATTTGGATTATTACTA	0.403000														27			20		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126557	31126557	+	Splice_Site	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:31126557G>A	uc003tca.2	+	11	1113	c.824_splice	c.e11-1	p.G275_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.G254_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcf.1_Splice_Site	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	275					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						GTTCTCCCAGGGACCCCAACT	0.537000														74			45		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014252	43014252	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:43014252G>A	uc003otq.3	-	10	2817	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*	CUL7_uc010jyg.3_Nonsense_Mutation_p.Q108*|CUL7_uc011dvb.2_Nonsense_Mutation_p.Q913*|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	829	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGAACCCTGGCACAGGTAT	0.567000														34			20		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24804818	24804818	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:24804818C>T	uc002dmm.3	+	6	3314	c.3200C>T	c.(3199-3201)cCt>cTt	p.P1067L	TNRC6A_uc010bxs.3_Missense_Mutation_p.P814L|TNRC6A_uc010vcc.1_Missense_Mutation_p.P814L|TNRC6A_uc002dmn.3_Missense_Mutation_p.P814L|TNRC6A_uc002dmo.3_Intron	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1067	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGGGAGCCTTCTACTCCA	0.527000														41			32		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619779	48619779	+	Missense_Mutation	SNP	G	A	A	rs149711883	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:48619779G>A	uc003ctz.2	-	45	4613	c.4612C>T	c.(4612-4614)Cgc>Tgc	p.R1538C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1538	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCCAGGGCGACCAGGCTCC	0.607000														79			56		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22449084	22449084	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:22449084C>T	uc003xby.3	+	8	1573	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	PDLIM2_uc003xca.3_Intron|PDLIM2_uc003xcc.2_Missense_Mutation_p.P262S|PDLIM2_uc003xcd.1_3'UTR	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	262						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCTTCTTGCCCAGCTCACT	0.642000														14			25		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20635466	20635466	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20635466C>T	uc002dhm.1	-	11	1667	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.L533L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	533					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATGCTGCTGCAGTTCCTTGG	0.542000														87			75		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129130158	129130159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:129130158_129130159GG>AA	uc003emg.3	-	4	1040_1041	c.877_878CC>TT	c.(877-879)ccg>TTg	p.P293L		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						CTTCTTGAGCGGACCCTTCAGG	0.574000														55			34		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826342	65826342	+	Silent	SNP	C	T	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:65826342C>T	uc001ogy.1	+	9	1048	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	336					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572000														21			14		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	888572	888572	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:888572G>A	uc009vjq.3	-	8	1044	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	NOC2L_uc001aby.4_Missense_Mutation_p.L126F|NOC2L_uc001abz.4_Missense_Mutation_p.L329F	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	329						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ACGGGGCCAAGGAAAGTGTCC	0.597000														14			14		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	-	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:159091487_159091489delGCT	uc003ipq.4	-	2	1328_1330	c.921_923delAGC	c.(919-924)gcagcg>gcg	p.307_308AA>A	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Intron|FAM198B_uc003ipr.4_Intron|FAM198B_uc003ips.3_3'UTR|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													---	46	---	---	7	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	-	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:146755399_146755401delCAG	uc010khw.1	+	8	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													---	268	---	---	8	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:41166638_41166640delGCT	uc003xnt.3	-	0	351_353	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													---	4	---	---	6	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					---	430	---	---	8	---					
AQP3	360	broad.mit.edu	37	9	33442435	33442435	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:33442435delC	uc003zsx.3	-	4	677	c.574delG	c.(574-576)gccfs	p.A192fs	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	192					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		ACGGTGAAGGCCTCCAGGCCT	0.622													---	4	---	---	2	---					
PTCH1	5727	broad.mit.edu	37	9	98211549	98211549	+	Frame_Shift_Del	DEL	G	-	-	rs138240178	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:98211549delG	uc004avk.4	-	21	3794	c.3606delC	c.(3604-3606)cccfs	p.P1202fs	PTCH1_uc010mrn.3_5'UTR|PTCH1_uc010mro.3_Frame_Shift_Del_p.P1051fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.P1051fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.P1051fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.P1051fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.P1201fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.P1136fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1202					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.S1203fs*52(2)|p.P1202L(1)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597													---	4	---	---	2	---					
DDIT4	54541	broad.mit.edu	37	10	74034674	74034675	+	Frame_Shift_Ins	INS	-	G	G	rs11539950		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:74034674_74034675insG	uc001jsx.1	+	2	629_630	c.427_428insG	c.(427-429)cggfs	p.R143fs	FU270201_uc021pst.1_5'Flank|FU270202_uc021psu.1_5'Flank	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	Homo sapiens DNA-damage-inducible transcript 4 (DDIT4), mRNA.	143					apoptosis			p.R143W(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCGGCCTGCGGGGGGCGCTG	0.693											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	9	---	---	32	---					
LDHA	3939	broad.mit.edu	37	11	18418438	18418439	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:18418438_18418439insAG	uc001mok.3	+	1	321_322	c.49_50insAG	c.(49-51)cagfs	p.Q17fs	LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Frame_Shift_Ins_p.Q17fs|LDHA_uc010rdc.1_Frame_Shift_Ins_p.Q17fs|LDHA_uc021qep.1_Frame_Shift_Ins_p.Q17fs|LDHA_uc010rdd.2_Frame_Shift_Ins_p.Q46fs	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	17					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AAAGGAAGAACAGACCCCCCAG	0.421													---	42	---	---	32	---