Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:48936151C>T	ENST00000294954.7	-	8	637	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E206K|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000													7	32					0	0	0.000157383	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501323	6501323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:6501323G>A	ENST00000601152.1	-	3	301	c.176C>T	c.(175-177)tCt>tTt	p.S59F	TUBB4A_ENST00000596926.1_Silent_p.I84I|TUBB4A_ENST00000598006.1_Missense_Mutation_p.S70F|TUBB4A_ENST00000264071.2_Silent_p.I84I|TUBB4A_ENST00000540257.1_Silent_p.I84I			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	0					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCGGCCGAAAGATCTGACCGA	0.577000													6	19					0	0	0.000157383	0	0
NHLH1	4807	broad.mit.edu	37	1	160340881	160340881	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:160340881C>T	ENST00000302101.5	+	2	806	c.360C>T	c.(358-360)gcC>gcT	p.A120A		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	120	Helix-loop-helix motif.				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)			TGCGCCTGGCCATCTGCTATA	0.622000													12	77					0	0	0.000308642	0	0
ZNF619	285267	broad.mit.edu	37	3	40528402	40528402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:40528402C>T	ENST00000447116.2	+	6	828	c.521C>T	c.(520-522)cCc>cTc	p.P174L	ZNF619_ENST00000522736.1_Missense_Mutation_p.P125L|ZNF619_ENST00000429348.2_Missense_Mutation_p.P134L|ZNF619_ENST00000456778.1_Missense_Mutation_p.P90L|ZNF619_ENST00000314686.5_Missense_Mutation_p.P118L|ZNF619_ENST00000432264.2_Missense_Mutation_p.P134L|ZNF619_ENST00000521353.1_Missense_Mutation_p.P174L|ZNF619_ENST00000520737.1_3'UTR	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	174					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGGACGTTCCCCAGCACCCT	0.443000													8	32					0	0	0.000157383	0	0
LRBA	987	broad.mit.edu	37	4	151791753	151791753	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:151791753A>G	ENST00000535741.1	-	20	2846	c.2373T>C	c.(2371-2373)ctT>ctC	p.L791L	LRBA_ENST00000510413.1_Silent_p.L791L|LRBA_ENST00000357115.3_Silent_p.L791L|LRBA_ENST00000507224.1_Silent_p.L791L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	791						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTGTTCTATAAGAATCTACA	0.308000													7	53					0	0	8.12818e-05	0	0
DNAH10	196385	broad.mit.edu	37	12	124289471	124289471	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:124289471G>A	ENST00000409039.3	+	17	2542	c.2517G>A	c.(2515-2517)ctG>ctA	p.L839L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	839	Stem (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)		GACCACTGCTGACCAAAGTTG	0.522000													12	69					0	0	0.00010058	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000													7	35					0	0	8.12818e-05	0	0
NCOA3	8202	broad.mit.edu	37	20	46277849	46277849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:46277849C>T	ENST00000371998.3	+	19	3838	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1216	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGgtgagctcccaggtgagg	0.498000													4	22					0	0	0.000602214	0	0
TMEM82	388595	broad.mit.edu	37	1	16073508	16073508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:16073508C>T	ENST00000375782.1	+	5	1042	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	302	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGGTGTCTCGTGGGCGT	0.642000													12	39					0	0	0.00010058	0	0
OR1N2	138882	broad.mit.edu	37	9	125315853	125315853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125315853G>A	ENST00000373688.2	+	1	463	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGGCTGTGATGGCATATGACC	0.502000													11	54					0	0	0.000673444	0	0
SVIL	6840	broad.mit.edu	37	10	29813491	29813491	+	Silent	SNP	C	C	T	rs113842540	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:29813491C>T	ENST00000375398.2	-	16	2945	c.2496G>A	c.(2494-2496)gcG>gcA	p.A832A	SVIL_ENST00000355867.4_Silent_p.A832A|SVIL_ENST00000375400.3_Silent_p.A406A			O95425	SVIL_HUMAN	supervillin	832					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.A832A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTAGAAATCGCTTTTGAGA	0.507000													11	67					0	0	0.000673444	0	0
TNR	7143	broad.mit.edu	37	1	175375497	175375497	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:175375497G>A	ENST00000367674.1	-	3	1062	c.354C>T	c.(352-354)atC>atT	p.I118I	TNR_ENST00000263525.2_Silent_p.I118I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	118					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGGAAGTTGATCCTGTGTG	0.592000													17	54					0	0	0.000958276	0	0
PRKACA	5566	broad.mit.edu	37	19	14213634	14213634	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:14213634G>A	ENST00000308677.4	-	4	526	c.330C>T	c.(328-330)tcC>tcT	p.S110S	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.S102S|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	110	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCACCTTGAAGGAGAACTCGA	0.582000													7	52					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196723507	196723507	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:196723507C>T	ENST00000312428.6	-	43	7858	c.7758G>A	c.(7756-7758)aaG>aaA	p.K2586K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2586	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTCATATCTCTTTTTCATTT	0.373000													6	55					0	0	3.59834e-05	0	0
BRF2	55290	broad.mit.edu	37	8	37704688	37704688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:37704688G>A	ENST00000220659.6	-	3	340	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	BRF2_ENST00000520601.1_Missense_Mutation_p.R74W|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	74					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTCACTCGCCGGAGACCTAGG	0.502000													7	29					0	0	0.000157383	0	0
RTL1	388015	broad.mit.edu	37	14	101350961	101350961	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:101350961C>T	ENST00000534062.1	-	1	223	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	55										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGGCTCCTTCTTTTCCTGGG	0.622000													5	18					0	0	0.000602214	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644853	20644853	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:20644853C>T	ENST00000428453.1	-	0	3094																		p.R802K(1)		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						GTCCCTCGCCCTTTCGGTCTT	0.453000													9	41					0	0	0.00010058	0	0
C8orf46	254778	broad.mit.edu	37	8	67428239	67428239	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:67428239G>A	ENST00000305454.3	+	6	993	c.552G>A	c.(550-552)cgG>cgA	p.R184R	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	184										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCATCCTCCGGAAAATGTGGA	0.547000													5	28					0	0	0.000602214	0	0
ATP7B	540	broad.mit.edu	37	13	52508944	52508944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:52508944C>T	ENST00000242839.4	-	21	4502	c.4346G>A	c.(4345-4347)gGg>gAg	p.G1449E	ATP7B_ENST00000400366.3_Missense_Mutation_p.G1338E|ATP7B_ENST00000344297.5_Missense_Mutation_p.G1242E|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1371E|ATP7B_ENST00000417240.2_Missense_Mutation_p.G660E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1384E|ATP7B_ENST00000400370.3_Missense_Mutation_p.G1019E	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1449					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCACTTGTCCCCATCATCGTC	0.617000									Wilson disease				7	38					0	0	8.12818e-05	0	0
GJA9	81025	broad.mit.edu	37	1	39341319	39341319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:39341319C>T	ENST00000454994.2	-	2	728	c.452G>A	c.(451-453)gGa>gAa	p.G151E	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.G151E|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.G151E			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	151					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AAGCAAGGTTCCTCTGAGTGG	0.428000													34	101					0	0	0.000409698	0	0
FBN2	2201	broad.mit.edu	37	5	127622428	127622428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:127622428C>T	ENST00000508053.1	-	61	7968	c.6994G>A	c.(6994-6996)Gat>Aat	p.D2332N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2332N			P35556	FBN2_HUMAN	fibrillin 2	2332	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTTCTCCATCGGGCCTTCGG	0.507000													6	26					0	0	3.59834e-05	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698494	96698494	+	Missense_Mutation	SNP	C	C	T	rs67807361		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96698494C>T	ENST00000260682.6	+	1	67	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	19			L -> I (in allele CYP2C9*7).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTTTCACTCTGGAGACA	0.473000													7	52					0	0	0.000274275	0	0
NUP210	23225	broad.mit.edu	37	3	13381526	13381526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:13381526G>A	ENST00000254508.5	-	25	3381	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1100					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCGCCCTCGGAGGTGACCTG	0.667000													9	54					0	0	0.000673444	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798377	148798377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:148798377C>T	ENST00000355220.5	+	5	1333	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGGAGGGATCCCACTTCTTA	0.547000													23	33					0	0	0.000375601	0	0
YES1	7525	broad.mit.edu	37	18	756706	756706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:756706G>A	ENST00000584307.1	-	2	292	c.122C>T	c.(121-123)cCa>cTa	p.P41L	YES1_ENST00000577961.1_Missense_Mutation_p.P46L|YES1_ENST00000314574.4_Missense_Mutation_p.P41L|YES1_ENST00000577611.1_5'UTR			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	41					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGACGGACATGGTGACACTGT	0.463000													13	118					0	0	0.000566183	0	0
CEP170	9859	broad.mit.edu	37	1	243329328	243329328	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:243329328A>T	ENST00000366542.1	-	13	1985	c.1934T>A	c.(1933-1935)cTt>cAt	p.L645H	CEP170_ENST00000366543.1_Missense_Mutation_p.L547H|CEP170_ENST00000366544.1_Missense_Mutation_p.L547H|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	645						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGCTGGGGAAGAGTTCGTCT	0.463000													4	10					0	0	0.00024832	0	0
CFHR1	3078	broad.mit.edu	37	1	196801091	196801091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:196801091G>A	ENST00000320493.5	+	6	1043	c.955G>A	c.(955-957)Gat>Aat	p.D319N	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.D260N	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	319	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AACATGTTGGGATGGGAAACT	0.358000													24	50					0	0	0.000184323	0	0
DRD3	1814	broad.mit.edu	37	3	113890765	113890765	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113890765C>T	ENST00000383673.2	-	2	505	c.75G>A	c.(73-75)caG>caA	p.Q25Q	DRD3_ENST00000295881.7_Silent_p.Q25Q|DRD3_ENST00000460779.1_Silent_p.Q25Q|DRD3_ENST00000467632.1_Silent_p.Q25Q	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	25					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GTGGGCGGGCCTGGCTGGCAC	0.627000													4	13					0	0	0.00024832	0	0
TFRC	7037	broad.mit.edu	37	3	195799012	195799012	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:195799012T>C	ENST00000360110.4	-	5	615	c.446A>G	c.(445-447)gAa>gGa	p.E149G	TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.E149G|TFRC_ENST00000420415.1_Missense_Mutation_p.E68G	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	149					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ATATGAATTTTCATTCAGCAG	0.323000			T	BCL6	NHL								16	52					0	0	0.00074312	0	0
C1QC	714	broad.mit.edu	37	1	22973765	22973765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:22973765G>A	ENST00000374639.3	+	3	345	c.227G>A	c.(226-228)gGa>gAa	p.G76E	C1QC_ENST00000374640.4_Missense_Mutation_p.G76E|C1QC_ENST00000374637.1_Missense_Mutation_p.G76E	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	76	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCAGAAGGGAGAACCCGGC	0.642000													7	16					0	0	0.000442599	0	0
KLHL1	57626	broad.mit.edu	37	13	70549773	70549773	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:70549773T>C	ENST00000377844.4	-	2	1418	c.659A>G	c.(658-660)aAc>aGc	p.N220S	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	220	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TATCTTTCGGTTCCCAACAAT	0.408000													8	56					0	0	0.000442599	0	0
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:2967741C>T	ENST00000520002.1	-	44	7105	c.6550G>A	c.(6550-6552)Gga>Aga	p.G2184R	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2183R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2184R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2184R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2183R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2184R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473000													4	12					0	0	0.000602214	0	0
FOXI1	2299	broad.mit.edu	37	5	169535321	169535321	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:169535321C>T	ENST00000306268.6	+	2	904	c.843C>T	c.(841-843)ttC>ttT	p.F281F	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	281					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAACAGCTTCCTTTCCTCTA	0.642000									Pendred syndrome				12	46					0	0	0.00010058	0	0
ZNF569	148266	broad.mit.edu	37	19	37916859	37916859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:37916859G>A	ENST00000316950.6	-	5	706	c.149C>T	c.(148-150)cCg>cTg	p.P50L	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.P50L|ZNF569_ENST00000589833.1_Missense_Mutation_p.P74L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGGTGAACGGATAGCCTGT	0.443000													32	170					0	0	0.000279167	0	0
DNAH5	1767	broad.mit.edu	37	5	13766289	13766289	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13766289C>T	ENST00000265104.4	-	59	10002		c.e59-1		DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGATGGTCTGGGGGATGA	0.522000									Kartagener syndrome				7	49					0	0	8.12818e-05	0	0
HDAC1	3065	broad.mit.edu	37	1	32797291	32797291	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32797291A>G	ENST00000373548.3	+	11	1187	c.1103A>G	c.(1102-1104)gAg>gGg	p.E368G	HDAC1_ENST00000373541.2_Missense_Mutation_p.E175G|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	368					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CGACTGTTTGAGAACCTTAGA	0.567000													10	67					0	0	0.000673444	0	0
MYLK4	340156	broad.mit.edu	37	6	2749435	2749435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:2749435C>T	ENST00000274643.7	-	2	436	c.94G>A	c.(94-96)Gag>Aag	p.E32K	MYLK4_ENST00000268446.5_Missense_Mutation_p.E32K	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	32							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTCACTTTCTCCACCTCTTCC	0.383000													16	65					0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	90052371	90052371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:90052371C>T	ENST00000405460.2	+	56	11777	c.11681C>T	c.(11680-11682)cCc>cTc	p.P3894L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3894					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGCGGAGGCCCGGAATGGAA	0.413000													15	74					0	0	0.000219431	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140249718G>A	ENST00000398640.2	+	1	1030	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000													6	44					0	0	3.59834e-05	0	0
AGAP3	116988	broad.mit.edu	37	7	150831497	150831497	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150831497A>G	ENST00000397238.2	+	11	1337	c.1337A>G	c.(1336-1338)cAg>cGg	p.Q446R	AGAP3_ENST00000463381.1_Missense_Mutation_p.Q218R	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	410	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATTACATGCAGAACATCCAC	0.612000													11	93					0	0	0.000151284	0	0
SLC26A6	65010	broad.mit.edu	37	3	48668507	48668507	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:48668507G>A	ENST00000358747.6	-	8	1240	c.990C>T	c.(988-990)atC>atT	p.I330I	SLC26A6_ENST00000383733.3_Silent_p.I351I|SLC26A6_ENST00000420764.2_Silent_p.I351I|SLC26A6_ENST00000337000.8_Silent_p.I244I|SLC26A6_ENST00000395550.2_Silent_p.I351I|SLC26A6_ENST00000455886.2_Silent_p.I315I	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CAACCACAGCGATGGTGAAGG	0.612000													14	50					0	0	0.000219431	0	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:16060702G>A	ENST00000322107.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000													12	45					0	0	0.000151284	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342270	58342270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:58342270G>A	ENST00000371015.1	+	5	1038	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E150K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E188K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E150K|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E150K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	191						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGTGGTGAAGAAGCAGACGC	0.542000													5	34					0	0	3.59834e-05	0	0
FUZ	80199	broad.mit.edu	37	19	50315587	50315587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:50315587G>A	ENST00000313777.4	-	3	402	c.239C>T	c.(238-240)aCc>aTc	p.T80I	FUZ_ENST00000526575.1_Intron|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.T80I|FUZ_ENST00000533418.1_Missense_Mutation_p.T30I|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	80					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AACAATGAGGGTGATGCTGTG	0.507000													9	23					0	0	0.000978159	0	0
LRP5	4041	broad.mit.edu	37	11	68216286	68216286	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:68216286C>T	ENST00000294304.7	+	23	4702	c.4596C>T	c.(4594-4596)atC>atT	p.I1532I	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1532	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCTACATCATTCGAGGAA	0.632000													6	31					0	0	0.000157383	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824022	38824022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:38824022G>A	ENST00000303592.3	-	2	374	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	39					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTAGCGCTGCGACTTGTTGCT	0.617000													86	117					0	0	0.000781405	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779823	20779823	+	Silent	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:20779823C>A	ENST00000398169.3	-	7	1336	c.720G>T	c.(718-720)gcG>gcT	p.A240A	CCNB1IP1_ENST00000437553.2_Silent_p.A240A|CCNB1IP1_ENST00000398160.2_Silent_p.A240A|CCNB1IP1_ENST00000398163.2_Silent_p.A240A|CCNB1IP1_ENST00000353689.4_Silent_p.A240A|CCNB1IP1_ENST00000358932.4_Silent_p.A240A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	240						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGGGAGAACCCGCAAAAAATG	0.458000			T	HMGA2	leiomyoma								9	124					0.000442599	0.00383804	0.000442599	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551704	1551704	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:1551704G>A	ENST00000381605.4	-	4	895	c.831C>T	c.(829-831)ttC>ttT	p.F277F	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	277	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGGGGGTAGAAATTGCTCA	0.537000													5	27					0	0	3.59834e-05	0	0
PRODH2	58510	broad.mit.edu	37	19	36304054	36304054	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36304054A>G	ENST00000301175.3	-	1	147	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	44					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			cttttgtggcaattgcttcct	0.483000													9	59					0	0	0.00010058	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581959	84581959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:84581959G>A	ENST00000286744.5	+	16	2040	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E606K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	606	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGCTGCCCGAGGAAGAGTG	0.637000													12	41					0	0	0.000978159	0	0
UGT3A1	133688	broad.mit.edu	37	5	35988570	35988570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35988570C>T	ENST00000274278.3	-	2	535	c.178G>A	c.(178-180)Gga>Aga	p.G60R	UGT3A1_ENST00000333811.4_Missense_Mutation_p.G6R|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G60R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	60						integral to membrane	glucuronosyltransferase activity	p.G60*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAACTTTCCACTCTGATGA	0.338000													10	24					0	0	0.000442599	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903127	32903127	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32903127T>A	ENST00000418107.2	-	5	1029	c.767A>T	c.(766-768)tAt>tTt	p.Y256F		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	256					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACCTTCTGAATAATTGGACCC	0.418000													8	32					0	0	0.000157383	0	0
BCAS1	8537	broad.mit.edu	37	20	52644982	52644982	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:52644982C>T	ENST00000395961.3	-	4	838	c.672G>A	c.(670-672)gtG>gtA	p.V224V	BCAS1_ENST00000411563.1_Silent_p.V127V|BCAS1_ENST00000371435.2_Silent_p.V224V|BCAS1_ENST00000371440.3_Silent_p.V224V	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	224						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GAACCTCATCCACCTTGTCTT	0.527000													21	121					0	0	0.000229342	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	C	T	rs145110689		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:178408731C>T	ENST00000231188.5	-	10	2739	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	854					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000													14	56					0	0	0.000219431	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:106814062C>T	ENST00000407775.2	+	8	2002	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ZFPM2_ENST00000378472.4_Silent_p.F315F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F452F|ZFPM2_ENST00000520492.1_Silent_p.F452F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	584					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCCAGAGTTCCCTAGTGTGT	0.443000													11	73					0	0	0.000151284	0	0
MYO7A	4647	broad.mit.edu	37	11	76868390	76868390	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:76868390G>A	ENST00000409709.3	+	8	1073	c.801G>A	c.(799-801)aaG>aaA	p.K267K	MYO7A_ENST00000409619.2_Silent_p.K256K|MYO7A_ENST00000409893.1_Silent_p.K267K|MYO7A_ENST00000458637.2_Silent_p.K267K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	267	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGATCAGAAGAAGAAGCTGG	0.592000													5	9					0	0	8.12818e-05	0	0
WHSC1	7468	broad.mit.edu	37	4	1902413	1902413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1902413C>T	ENST00000503128.1	+	2	239	c.32C>T	c.(31-33)tCt>tTt	p.S11F	WHSC1_ENST00000514045.1_Missense_Mutation_p.S11F|WHSC1_ENST00000398261.1_Missense_Mutation_p.S11F|WHSC1_ENST00000436793.1_Missense_Mutation_p.S11F|WHSC1_ENST00000508803.1_Missense_Mutation_p.S11F|WHSC1_ENST00000420906.2_Missense_Mutation_p.S11F|WHSC1_ENST00000382891.5_Missense_Mutation_p.S11F|WHSC1_ENST00000382892.2_Missense_Mutation_p.S11F|WHSC1_ENST00000382895.3_Missense_Mutation_p.S11F			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	11					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGTCCCCTTTCTGTTCAGAGT	0.448000			T	IGH@	MM								18	82					0	0	0.00074312	0	0
ACP5	54	broad.mit.edu	37	19	11688000	11688000	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11688000C>A	ENST00000592828.1	-	4	535	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	ACP5_ENST00000433365.2_Missense_Mutation_p.A45S|ACP5_ENST00000412435.2_Missense_Mutation_p.A45S|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.A45S	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	45				AR -> GP (in Ref. 1; AAA76849).	water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATTTCCCGGGCCGTGTGGAAT	0.592000													8	27					1.12685e-05	9.88129e-05	0.000274275	1	0
FARP2	9855	broad.mit.edu	37	2	242373582	242373582	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:242373582C>A	ENST00000264042.3	+	10	1047	c.877C>A	c.(877-879)Cag>Aag	p.Q293K	FARP2_ENST00000545004.1_Missense_Mutation_p.Q293K|FARP2_ENST00000373287.4_Missense_Mutation_p.Q293K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	293	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGACCTTACCAGGACACATT	0.363000													6	106					0.000442599	0.00383804	0.000442599	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168493	142168493	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142168493C>T	ENST00000454561.2	-	0	430																											AGGGAAGTTTCCTCTGCCATT	0.517000													12	61					0	0	0.00010058	0	0
SYTL2	54843	broad.mit.edu	37	11	85436427	85436427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:85436427G>A	ENST00000359152.5	-	1	2644	c.2645C>T	c.(2644-2646)gCc>gTc	p.A882V	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.A358V|SYTL2_ENST00000525423.1_Missense_Mutation_p.A358V|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGAGGGCTGGCCACATCCCC	0.483000													11	27					0	0	0.000673444	0	0
MMEL1	79258	broad.mit.edu	37	1	2540832	2540832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:2540832C>T	ENST00000288709.6	-	6	694	c.454G>A	c.(454-456)Gac>Aac	p.D152N	MMEL1_ENST00000502556.1_Splice_Site|MMEL1_ENST00000378412.3_Missense_Mutation_p.D161N	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	161					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCGGCCGGTCCTTGGCAGTC	0.677000													7	11					0	0	0.000157383	0	0
GOLGA2	2801	broad.mit.edu	37	9	131021448	131021448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:131021448G>A	ENST00000421699.2	-	19	2026	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	672						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCTCACCTGGGTTTCCTGC	0.632000													4	25					0	0	0.000602214	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638365	156638365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:156638365G>A	ENST00000296518.7	+	8	1836	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D543N|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D285N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D543N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D543N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D543N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D543N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	543	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAGAGTGATACTCATGC	0.433000													7	18					0	0	8.12818e-05	0	0
TRPM1	4308	broad.mit.edu	37	15	31342697	31342697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:31342697C>T	ENST00000542188.1	-	11	1716	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TRPM1_ENST00000256552.6_Missense_Mutation_p.G451E|TRPM1_ENST00000397795.2_Missense_Mutation_p.G429E	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	429					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tttcccttttcctcttcctcc	0.562000													11	29					0	0	0.000673444	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826561	43826561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:43826561C>T	ENST00000389420.3	-	20	2773	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R925K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R79K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	925	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCCAAGGTTCTATATCCTTG	0.383000													16	108					0	0	0.000958276	0	0
NAT10	55226	broad.mit.edu	37	11	34129802	34129802	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:34129802C>T	ENST00000257829.3	+	2	236	c.30C>T	c.(28-30)atC>atT	p.I10I	NAT10_ENST00000527971.1_Silent_p.I10I|NAT10_ENST00000531159.2_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	10						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATAACCGAATCCGGATTCTCA	0.418000													16	124					0	0	0.000958276	0	0
GABRE	2564	broad.mit.edu	37	X	151138795	151138795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151138795C>T	ENST00000370325.1	-	2	189	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E46K			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGATTTTCCAGAGGCTGG	0.502000													17	52					0	0	0.000175454	0	0
TMEM119	338773	broad.mit.edu	37	12	108985499	108985499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:108985499C>T	ENST00000392806.3	-	2	829	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	221						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACCCCATGTCCCTGGACTTCC	0.697000													4	39					0	0	0.00024832	0	0
OR6C1	390321	broad.mit.edu	37	12	55714509	55714509	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:55714509C>T	ENST00000379668.2	+	1	164	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GGAACCTGACCCTTATCACAA	0.423000													5	24					0	0	0.000602214	0	0
GALC	2581	broad.mit.edu	37	14	88450795	88450795	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:88450795G>A	ENST00000261304.2	-	5	631	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GALC_ENST00000393569.2_Silent_p.V149V|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.V119V|GALC_ENST00000393568.4_Silent_p.V152V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	175					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCAGGTCACGACATAATAGG	0.433000													7	36					0	0	0.000157383	0	0
KIF6	221458	broad.mit.edu	37	6	39607510	39607510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:39607510G>A	ENST00000287152.7	-	4	369	c.275C>T	c.(274-276)aCc>aTc	p.T92I	KIF6_ENST00000538893.1_Missense_Mutation_p.T92I|KIF6_ENST00000373216.3_Missense_Mutation_p.T92I|KIF6_ENST00000373215.3_Missense_Mutation_p.T92I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	92	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCAAAGATGGTACCATTGTA	0.428000													5	34					0	0	0.000157383	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593057	125593057	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:125593057A>G	ENST00000504087.1	-	4	2412	c.1375T>C	c.(1375-1377)Tta>Cta	p.L459L	ANKRD50_ENST00000515641.1_Silent_p.L280L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	459										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAGTTAATTAAGTGCAATGCA	0.388000													6	46					0	0	8.12818e-05	0	0
NPR2	4882	broad.mit.edu	37	9	35809185	35809185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35809185G>A	ENST00000342694.2	+	21	3274	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	1007					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TACCACCAAGGATGCCCTAGA	0.542000													27	89					0	0	0.000227799	0	0
TRANK1	9881	broad.mit.edu	37	3	36899218	36899218	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:36899218C>T	ENST00000429976.2	-	12	2110	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G	TRANK1_ENST00000428977.2_Silent_p.G71G|TRANK1_ENST00000301807.6_Silent_p.G71G			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	621					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGAGCTTCCCCAGGTGGG	0.572000													12	65					0	0	0.00010058	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121980842C>T	ENST00000498619.1	+	4	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000296154.5_Silent_p.F320F|CASR_ENST00000490131.1_Silent_p.F320F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577000													7	38					0	0	0.000157383	0	0
CDS2	8760	broad.mit.edu	37	20	5157336	5157336	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:5157336A>C	ENST00000460006.1	+	4	641	c.334A>C	c.(334-336)Att>Ctt	p.I112L	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	112					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATAATCACTATTGGCTACAA	0.448000													16	125					0	0	0.000422831	0	0
DCC	1630	broad.mit.edu	37	18	50929236	50929236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:50929236C>T	ENST00000442544.2	+	19	3524	c.2908C>T	c.(2908-2910)Ccc>Tcc	p.P970S	DCC_ENST00000581580.1_Missense_Mutation_p.P605S|DCC_ENST00000412726.1_Missense_Mutation_p.P798S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	970	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGGCAGCCTCCCTTGGAAGC	0.522000													14	102					0	0	0.000566183	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783942	25783942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:25783942C>T	ENST00000399878.3	-	15	2501	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.M640I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.M758I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	793						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGGGTTCCCCATTTCTTCTG	0.463000													5	44					0	0	0.000602214	0	0
DSG4	147409	broad.mit.edu	37	18	28971161	28971161	+	Silent	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:28971161T>C	ENST00000359747.4	+	7	834	c.805T>C	c.(805-807)Tta>Cta	p.L269L	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.L269L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	269	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCCCCACCTTAGAGAAAAC	0.398000													6	34					0	0	0.000442599	0	0
MMP15	4324	broad.mit.edu	37	16	58072257	58072257	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:58072257C>T	ENST00000219271.3	+	3	1184	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	133					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGCGCTACGCCCTCACCGGGA	0.652000													10	53					0	0	0.000978159	0	0
OR4N2	390429	broad.mit.edu	37	14	20295982	20295982	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:20295982C>T	ENST00000568211.1	+	1	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR4N2_ENST00000315947.1_Silent_p.A125A			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTACATCGCCATCTGCCGGC	0.517000													7	191					0	0	0.000274275	0	0
UACA	55075	broad.mit.edu	37	15	70970503	70970503	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:70970503T>G	ENST00000322954.6	-	11	1119	c.934A>C	c.(934-936)Aaa>Caa	p.K312Q	UACA_ENST00000539319.1_Missense_Mutation_p.K203Q|UACA_ENST00000560441.1_Missense_Mutation_p.K299Q|UACA_ENST00000379983.2_Missense_Mutation_p.K299Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	312						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGCTGAATTTTTCTCAACCTC	0.308000													30	58					0	0	0.000409698	0	0
CD247	919	broad.mit.edu	37	1	167407878	167407878	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:167407878G>A	ENST00000392122.3	-	4	373	c.229C>T	c.(229-231)Cta>Tta	p.L77L	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.L77L	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	77	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CTTCGTCCTAGATTGAGCTCC	0.542000													24	97					0	0	0.00047179	0	0
MTUS2	23281	broad.mit.edu	37	13	30066824	30066824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:30066824G>A	ENST00000431530.3	+	10	3635	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K	MTUS2_ENST00000380808.2_Missense_Mutation_p.E162K|MTUS2_ENST00000542829.1_Missense_Mutation_p.E72K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1183						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAATTGGAAGAAAATTTTGA	0.348000													12	45					0	0	0.000151284	0	0
ESCO1	114799	broad.mit.edu	37	18	19153719	19153719	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:19153719A>G	ENST00000269214.5	-	4	2023	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	362					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAAAACGATTACATTGCACAT	0.348000													20	98					0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179430280	179430280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179430280C>T	ENST00000589042.1	-	326	80803	c.80579G>A	c.(80578-80580)gGa>gAa	p.G26860E	TTN_ENST00000591111.1_Missense_Mutation_p.G25219E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24292E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G17795E|TTN_ENST00000342175.6_Missense_Mutation_p.G17987E|TTN_ENST00000359218.5_Missense_Mutation_p.G17920E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25219	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGCTTTTTCCTTTCTCATT	0.403000													9	46					0	0	0.000274275	0	0
GABRB1	2560	broad.mit.edu	37	4	47405408	47405408	+	Silent	SNP	C	C	T	rs6286		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47405408C>T	ENST00000295454.3	+	6	910	c.618C>T	c.(616-618)atC>atT	p.I206I	GABRB1_ENST00000538619.1_Silent_p.I136I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	206					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTAATAAAATCGAACTTCCTC	0.413000													7	27					0	0	8.12818e-05	0	0
FILIP1	27145	broad.mit.edu	37	6	76023073	76023073	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76023073C>T	ENST00000393004.2	-	5	2696	c.2475G>A	c.(2473-2475)cgG>cgA	p.R825R	FILIP1_ENST00000237172.7_Silent_p.R825R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.R726R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	825								p.R825R(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGAAGGATTTCCGTATGAATA	0.463000													25	108					0	0	0.000184323	0	0
TMEM156	80008	broad.mit.edu	37	4	39000431	39000431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:39000431G>A	ENST00000381938.3	-	2	294	c.187C>T	c.(187-189)Cca>Tca	p.P63S	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	63						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCCTTACTGGTTGCAGAAAA	0.358000													4	18					0	0	0.00024832	0	0
PTGS1	5742	broad.mit.edu	37	9	125154609	125154609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125154609C>T	ENST00000362012.2	+	11	1591	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	PTGS1_ENST00000540753.1_Missense_Mutation_p.S467F|PTGS1_ENST00000373698.5_Missense_Mutation_p.S420F|PTGS1_ENST00000223423.4_Missense_Mutation_p.S492F	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	529		Aspirin-acetylated serine.			cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCTCCCTTTTCCCTCAAGGGT	0.512000													12	86					0	0	0.000308642	0	0
KCNG1	3755	broad.mit.edu	37	20	49626525	49626525	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:49626525G>A	ENST00000371571.4	-	2	636	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.F117F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACT	0.647000													6	44					0	0	3.59834e-05	0	0
CFAP221	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:120383201C>T	ENST00000602047.1	+	16	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_ENST00000413369.3_Missense_Mutation_p.R485C|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000													5	16					0	0	3.59834e-05	0	0
GFRAL	389400	broad.mit.edu	37	6	55216067	55216067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:55216067G>A	ENST00000340465.2	+	5	473	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	129						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGGGATGTGGTCCTGTTTGG	0.443000													8	67					0	0	0.000978159	0	0
MAOA	4128	broad.mit.edu	37	X	43542827	43542827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:43542827G>A	ENST00000338702.3	+	2	263	c.140G>A	c.(139-141)aGg>aAg	p.R47K	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	47					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GCTCGGGACAGGGTTGGAGGA	0.373000													10	26					0	0	0.00010058	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885278	12885278	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:12885278G>T	ENST00000535591.1	-	4	1028	c.833C>A	c.(832-834)cCg>cAg	p.P278Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	278										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACTGATACTCGGGCACTGGGA	0.478000													10	345					0.000978159	0.00844315	0.000978159	1	0
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:120996548C>T	ENST00000392793.1	+	8	2012	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	TECTA_ENST00000264037.2_Missense_Mutation_p.P581S			O75443	TECTA_HUMAN	tectorin alpha	581					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592000													5	22					0	0	0.000602214	0	0
PTCD1	26024	broad.mit.edu	37	7	99017660	99017660	+	Missense_Mutation	SNP	C	C	T	rs150466149		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99017660C>T	ENST00000292478.4	-	8	2283	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	PTCD1_ENST00000555673.1_Missense_Mutation_p.R727Q|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R727Q	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTTGGTCCGGAACTTCTG	0.612000													9	107					0	0	0.000673444	0	0
SCN11A	11280	broad.mit.edu	37	3	38888258	38888258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38888258G>A	ENST00000450244.1	-	26	5501	c.5303C>T	c.(5302-5304)tCa>tTa	p.S1768L	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1730L|SCN11A_ENST00000302328.3_Missense_Mutation_p.S1768L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1768					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTGGAGTGGTGAATGAGGCCC	0.507000													9	32					0	0	0.000442599	0	0
RETNLB	84666	broad.mit.edu	37	3	108475997	108475997	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108475997G>A	ENST00000295755.6	-	1	234	c.36C>T	c.(34-36)atC>atT	p.I12I		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	12					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGAAGGGGGATTAGGATGA	0.507000													6	29					0	0	8.12818e-05	0	0
RGPD4	285190	broad.mit.edu	37	2	108488584	108488584	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:108488584A>T	ENST00000408999.3	+	20	4201	c.4124A>T	c.(4123-4125)aAa>aTa	p.K1375I	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1375I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1375	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTCAATGGAAAGAAAGGGGC	0.353000													26	104					0	0	0.000491102	0	0
TTC7B	145567	broad.mit.edu	37	14	91124698	91124698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:91124698C>T	ENST00000357056.2	-	10	1307	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	TTC7B_ENST00000328459.6_Missense_Mutation_p.E396K			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	396							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGGTGGAATTCCTCAAAGGCA	0.463000													21	82					0	0	0.000295444	0	0
IGDCC4	57722	broad.mit.edu	37	15	65677350	65677350	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:65677350G>T	ENST00000352385.2	-	19	3493	c.3284C>A	c.(3283-3285)cCc>cAc	p.P1095H	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1095						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGCAGGGGGCAGCAGGGC	0.672000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	45					2.21704e-12	1.96618e-11	0.000375601	1	0
TRPV6	55503	broad.mit.edu	37	7	142569537	142569537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142569537C>T	ENST00000359396.3	-	15	2346	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	701	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCAGGGTCCCTTGCCGAAGC	0.587000													9	60					0	0	0.000442599	0	0
SAMD9	54809	broad.mit.edu	37	7	92731442	92731442	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:92731442G>A	ENST00000379958.2	-	3	4238	c.3969C>T	c.(3967-3969)ttC>ttT	p.F1323F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1323						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGGCTCACTGAACTTTGATC	0.378000													15	116					0	0	0.000308642	0	0
CHL1	10752	broad.mit.edu	37	3	367692	367692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:367692C>T	ENST00000256509.2	+	4	784	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	CHL1_ENST00000397491.2_Missense_Mutation_p.P48S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	48	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTTGCCTTTCCCTTCGATGA	0.343000													6	20					0	0	8.12818e-05	0	0
ABCA8	10351	broad.mit.edu	37	17	66914290	66914290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:66914290G>A	ENST00000269080.2	-	14	1962	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	ABCA8_ENST00000586539.1_Missense_Mutation_p.P649S|ABCA8_ENST00000430352.2_Missense_Mutation_p.P649S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	609	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTGAAAAGGGATCCAATCCA	0.453000													9	40					0	0	0.000442599	0	0
NFX1	4799	broad.mit.edu	37	9	33311157	33311157	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:33311157G>C	ENST00000379540.3	+	6	1492	c.1430G>C	c.(1429-1431)tGt>tCt	p.C477S	NFX1_ENST00000379521.4_Missense_Mutation_p.C477S|NFX1_ENST00000318524.6_Missense_Mutation_p.C477S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	477					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACAAAAACATGTGAATGTGGA	0.408000													22	101					0	0	0.000586117	0	0
NID2	22795	broad.mit.edu	37	14	52472502	52472502	+	Missense_Mutation	SNP	C	C	T	rs149021065		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:52472502C>T	ENST00000216286.5	-	21	4069	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	NID2_ENST00000541773.1_Missense_Mutation_p.R1256Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	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													7	39					0	0	0.000442599	0	0
TARBP2	6895	broad.mit.edu	37	12	53898929	53898929	+	Silent	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:53898929T>G	ENST00000266987.2	+	7	1107	c.624T>G	c.(622-624)acT>acG	p.T208T	TARBP2_ENST00000456234.2_Silent_p.T187T|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Silent_p.T187T	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	208	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGAGTGGCACTTCCAAAAAAT	0.577000													8	75					0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8717790	8717790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:8717790G>A	ENST00000378641.3	+	20	2634	c.2159G>A	c.(2158-2160)gGa>gAa	p.G720E	PLCB1_ENST00000378637.2_Missense_Mutation_p.G720E|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G720E	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	720	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACATCCCAAGGAAATGCTGTG	0.383000													6	51					0	0	8.12818e-05	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502000													9	41					0	0	0.000442599	0	0
SPDYA	245711	broad.mit.edu	37	2	29072743	29072743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:29072743G>A	ENST00000334056.5	+	8	1067	c.878G>A	c.(877-879)gGa>gAa	p.G293E	SPDYA_ENST00000379579.4_Missense_Mutation_p.G293E|TRMT61B_ENST00000306108.5_3'UTR	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	293					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAAATAAAGGAAAGAAAACT	0.289000													9	47					0	0	0.000442599	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244240	1244240	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1244240C>T	ENST00000581398.1	+	0	194				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NR_033339.1																						GGAGGGGCAGCCCTGCAGAGA	0.597000													4	21					0	0	0.00024832	0	0
RELN	5649	broad.mit.edu	37	7	103136310	103136310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:103136310G>A	ENST00000424685.2	-	57	9388	c.9229C>T	c.(9229-9231)Cct>Tct	p.P3077S	RELN_ENST00000343529.5_Missense_Mutation_p.P3077S|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.P3077S			P78509	RELN_HUMAN	reelin	3077					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGCATTAGGGTAAAAACTC	0.408000													7	78					0	0	0.000157383	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896572	89896572	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89896572G>A	ENST00000534061.1	+	10	1400	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.R357R|NAALAD2_ENST00000525171.1_Silent_p.R297R	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	390	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATTGCCCGGAGTTTTGGAA	0.413000													19	95					0	0	0.000295444	0	0
ACACB	32	broad.mit.edu	37	12	109703001	109703001	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:109703001C>T	ENST00000338432.7	+	51	7148	c.7029C>T	c.(7027-7029)atC>atT	p.I2343I	ACACB_ENST00000377848.3_Silent_p.I2343I|ACACB_ENST00000377854.5_Silent_p.I2273I|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2343					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCAGGAGATCCTGCAGGCCA	0.642000													7	35					0	0	8.12818e-05	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079267	9079267	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:9079267C>T	ENST00000400906.1	-	4	436		c.e4+1			NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7							integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCCAGGTACCTGCACAGAC	0.592000													4	19					0	0	8.12818e-05	0	0
EPG5	57724	broad.mit.edu	37	18	43446814	43446814	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:43446814G>A	ENST00000282041.5	-	38	6604	c.6570C>T	c.(6568-6570)ctC>ctT	p.L2190L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2190					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACACTTTTAGGAGCTTCATGA	0.438000													22	122					0	0	0.000295444	0	0
RAB20	55647	broad.mit.edu	37	13	111176065	111176065	+	Missense_Mutation	SNP	C	C	T	rs141229904		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:111176065C>T	ENST00000267328.3	-	2	865	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	218					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CTGGATATATCCACTGTGTGT	0.542000													4	24					0	0	0.00024832	0	0
CILP2	148113	broad.mit.edu	37	19	19654824	19654824	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:19654824C>T	ENST00000586018.1	+	8	1590	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CILP2_ENST00000291495.4_Silent_p.F490F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	490						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCTACGCTTCGCCAGGATTC	0.667000													7	30					0	0	0.000274275	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:63174573G>A	ENST00000322893.7	-	11	2888	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	874					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTATCCAAACGAAGGTCACTT	0.507000													11	48					0	0	0.00010058	0	0
ANK3	288	broad.mit.edu	37	10	61834170	61834170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61834170G>A	ENST00000280772.1	-	37	6660	c.6469C>T	c.(6469-6471)Ccc>Tcc	p.P2157S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2157					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAGGGATGGGAACTTCATGA	0.478000													12	53					0	0	0.000422831	0	0
C1orf111	284680	broad.mit.edu	37	1	162344318	162344318	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:162344318G>A	ENST00000367935.4	-	3	385	c.306C>T	c.(304-306)ttC>ttT	p.F102F	C1orf111_ENST00000493255.1_5'UTR|RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	102										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CTGCACACACGAAGTAGCTGT	0.572000													23	103					0	0	0.00047179	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691871	30691871	+	Missense_Mutation	SNP	G	G	A	rs79375991		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:30691871G>A	ENST00000295754.5	+	3	755	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E150K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATTATGAAGGAAAAAAAAAA	0.418000													8	47					0	0	0.000274275	0	0
NPY5R	4889	broad.mit.edu	37	4	164271626	164271626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:164271626G>A	ENST00000515560.1	+	4	1723	c.201G>A	c.(199-201)atG>atA	p.M67I	NPY5R_ENST00000506953.1_Missense_Mutation_p.M67I|NPY5R_ENST00000338566.3_Missense_Mutation_p.M67I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	67					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)				TGGCTCTCATGAAAAAGCGTA	0.388000													30	125					0	0	0.00058488	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:71570920G>A	ENST00000338482.5	+	3	683	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CHST4_ENST00000572450.1_Missense_Mutation_p.E114K|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.E114K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	114					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000													8	43					0	0	0.000673444	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229131	74229131	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:74229131A>G	ENST00000316292.9	-	2	1244	c.253T>C	c.(253-255)Tac>Cac	p.Y85H	EEF1A1_ENST00000331523.2_Missense_Mutation_p.Y85H|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.Y85H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	85						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCACATAGTACTTGCTGGTC	0.428000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	82					0	0	0.000175454	0	0
C1orf74	148304	broad.mit.edu	37	1	209956442	209956442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:209956442G>A	ENST00000294811.1	-	2	794	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	180										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGGGAACAGGATAGCCCAGG	0.517000													23	40					0	0	0.000878237	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817538	26817538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:26817538G>A	ENST00000444914.3	+	3	865	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V57M|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V29M|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V100M	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	100						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGCCATCGCGGTGGAACACTG	0.627000													10	31					0	0	0.000978159	0	0
HEATR5A	25938	broad.mit.edu	37	14	31817009	31817009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:31817009G>A	ENST00000543095.2	-	19	2997	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	HEATR5A_ENST00000404677.3_Missense_Mutation_p.S938F|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S932F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S645F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.S932F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	932							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAATACAAGAATTTAGGTG	0.428000													4	18					0	0	0.000602214	0	0
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:35533826G>A	ENST00000262878.4	-	12	1550	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348000													29	77					0	0	0.000227799	0	0
STEAP3	55240	broad.mit.edu	37	2	120003228	120003228	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:120003228C>T	ENST00000354888.5	+	3	660	c.156C>T	c.(154-156)ttC>ttT	p.F52F	STEAP3_ENST00000393106.2_Silent_p.F52F|STEAP3_ENST00000393107.2_Silent_p.F52F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Silent_p.F62F|STEAP3_ENST00000425223.2_Silent_p.F52F|STEAP3_ENST00000393108.2_Silent_p.F52F|STEAP3_ENST00000409811.1_Silent_p.F52F|STEAP3_ENST00000450943.2_Silent_p.F52F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	52					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCTGGCTTCAAAGTGGTGG	0.652000													9	28					0	0	0.000673444	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56539808C>T	ENST00000390649.3	+	7	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000													28	120					0	0	0.000720815	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273953	10273953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:10273953G>A	ENST00000396573.2	-	3	625	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.Q106*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.Q106*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.Q106*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.Q106*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	106					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGGCCTCCTGGTCCGTGTCG	0.602000													12	52					0	0	0.000219431	0	0
ARSA	410	broad.mit.edu	37	22	51064619	51064619	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:51064619C>T	ENST00000547307.1	-	5	1341	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ARSA_ENST00000547805.1_Silent_p.E312E|ARSA_ENST00000453344.2_Silent_p.E228E|ARSA_ENST00000216124.5_Silent_p.E314E|ARSA_ENST00000395621.3_Silent_p.E314E|ARSA_ENST00000395619.3_Silent_p.E314E|ARSA_ENST00000356098.5_Silent_p.E314E			P15289	ARSA_HUMAN	arylsulfatase A	312			E -> D (in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAAGGCAGGCTCTCGGACAC	0.642000													8	11					0	0	0.000157383	0	0
ZMYND19	116225	broad.mit.edu	37	9	140477021	140477021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:140477021G>A	ENST00000298585.2	-	6	884	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	220						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCTCATGCTGGAAGGGACGC	0.647000													8	40					0	0	0.00010058	0	0
BCAS1	8537	broad.mit.edu	37	20	52601928	52601928	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:52601928C>T	ENST00000395961.3	-	7	1204	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	BCAS1_ENST00000371435.2_Silent_p.S346S|BCAS1_ENST00000434986.2_Silent_p.S104S|BCAS1_ENST00000371440.3_Silent_p.S391S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	346						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTGTGTGCCCCGATGGGTTGC	0.532000													26	72					0	0	0.000227799	0	0
NRK	203447	broad.mit.edu	37	X	105181565	105181565	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:105181565A>T	ENST00000428173.2	+	22	4096	c.3793A>T	c.(3793-3795)Acc>Tcc	p.T1265S	NRK_ENST00000243300.9_Missense_Mutation_p.T1264S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1264	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGCTGATTACCATCTCAGG	0.373000										HNSCC(51;0.14)			5	9					0	0	3.59834e-05	0	0
MCTP1	79772	broad.mit.edu	37	5	94288923	94288923	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:94288923C>T	ENST00000515393.1	-	3	980	c.981_splice	c.e3+1	p.K327_splice	MCTP1_ENST00000505208.1_Splice_Site_p.K106_splice|MCTP1_ENST00000429576.2_Splice_Site_p.K106_splice|MCTP1_ENST00000312216.8_Splice_Site_p.K106_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	327	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATGGCTCACCTTTATATACA	0.358000													7	15					0	0	0.000673444	0	0
KERA	11081	broad.mit.edu	37	12	91449292	91449292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:91449292G>A	ENST00000266719.3	-	2	1014	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	256					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAATCCTCTTGATGGGAGACC	0.393000													6	24					0	0	3.59834e-05	0	0
WHSC1	7468	broad.mit.edu	37	4	1920195	1920195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1920195G>A	ENST00000503128.1	+	5	1462	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	WHSC1_ENST00000514045.1_Missense_Mutation_p.G419R|WHSC1_ENST00000398261.1_Missense_Mutation_p.G419R|WHSC1_ENST00000508803.1_Missense_Mutation_p.G419R|WHSC1_ENST00000420906.2_Missense_Mutation_p.G419R|WHSC1_ENST00000382891.5_Missense_Mutation_p.G419R|WHSC1_ENST00000382892.2_Missense_Mutation_p.G419R|WHSC1_ENST00000382895.3_Missense_Mutation_p.G419R			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	419					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCCCGACATAGGGAAGAGTAC	0.557000			T	IGH@	MM								4	18					0	0	3.59834e-05	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186943	140186943	+	Silent	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140186943G>T	ENST00000530339.1	+	1	171	c.171G>T	c.(169-171)gcG>gcT	p.A57A	PCDHA4_ENST00000512229.2_Silent_p.A57A|PCDHA4_ENST00000356878.4_Silent_p.A57A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.637000													23	75					2.21704e-12	1.96618e-11	0.000375601	1	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(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)	CGAGATTTCACTGTAGCTAGA	0.363000	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				26	38					0	0	0.000878237	0	0
ZP2	7783	broad.mit.edu	37	16	21213434	21213434	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:21213434C>T	ENST00000574002.1	-	12	1760	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	ZP2_ENST00000219593.4_Silent_p.T426T|ZP2_ENST00000574091.1_Silent_p.T426T|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	426	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTTATATCTCGTTCCACATC	0.488000													4	20					0	0	0.00024832	0	0
GABRA6	2559	broad.mit.edu	37	5	161116329	161116329	+	Silent	SNP	C	C	T	rs139264126	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:161116329C>T	ENST00000523217.1	+	5	728	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GABRA6_ENST00000274545.5_Silent_p.L172L|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	172					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTGTCCACTCAAGTTTGGGA	0.393000										TCGA Ovarian(5;0.080)			7	61					0	0	8.12818e-05	0	0
ZNF235	9310	broad.mit.edu	37	19	44792362	44792362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:44792362C>T	ENST00000291182.4	-	5	1328	c.1226G>A	c.(1225-1227)gGg>gAg	p.G409E	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAAGCCCTTCCCACACACCTC	0.438000													5	28					0	0	0.000602214	0	0
ZNF516	9658	broad.mit.edu	37	18	74091449	74091449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:74091449G>A	ENST00000443185.2	-	4	2938	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGAGCGCAGGGACCTCCGGA	0.647000													20	93					0	0	0.000295444	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052075	36052075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36052075C>T	ENST00000282507.3	-	3	309	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E36K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	70						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTTTTCTTCCTTTTTAAAA	0.284000													5	40					0	0	0.000157383	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427349	38427349	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:38427349C>T	ENST00000322350.5	+	14	2395	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000354891.3_Silent_p.V683V|EGFLAM_ENST00000336740.6_Silent_p.V449V|EGFLAM_ENST00000397202.2_Silent_p.V49V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	683	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGACCGGTGTCCTCAGGTGAG	0.502000													10	91					0	0	0.000151284	0	0
NYAP1	222950	broad.mit.edu	37	7	100086448	100086448	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100086448C>T	ENST00000423930.1	+	4	1263	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	NYAP1_ENST00000300179.2_Silent_p.G368G|NYAP1_ENST00000454988.1_Silent_p.G311G			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	368	Pro-rich.																AGCCAGCCGGCTCCACCCCAG	0.687000													15	21					0	0	0.000308642	0	0
NFYB	4801	broad.mit.edu	37	12	104517131	104517131	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:104517131G>C	ENST00000240055.3	-	5	529	c.302C>G	c.(301-303)gCa>gGa	p.A101G	NFYB_ENST00000551727.1_Missense_Mutation_p.A101G	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	101	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTTTCACTTGCTTCAGATGT	0.358000													14	58					0	0	0.000219431	0	0
HSPA8	3312	broad.mit.edu	37	11	122929032	122929032	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:122929032C>T	ENST00000534624.1	-	8	1959	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	HSPA8_ENST00000532636.1_Silent_p.K561K|HSPA8_ENST00000534319.1_Silent_p.K325K|HSPA8_ENST00000533540.1_Silent_p.K415K|HSPA8_ENST00000227378.3_Silent_p.K561K|HSPA8_ENST00000526110.1_Silent_p.K542K|HSPA8_ENST00000453788.2_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	561					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCGTTAATCTTGCCTTGAA	0.363000													9	102					0	0	0.000442599	0	0
SLIT2	9353	broad.mit.edu	37	4	20568947	20568947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:20568947G>A	ENST00000504154.1	+	27	3040	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	SLIT2_ENST00000503823.1_Missense_Mutation_p.D922N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D934N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D926N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	930	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGTAAAAATGATGGCACATG	0.383000													13	65					0	0	0.00010058	0	0
SURF6	6838	broad.mit.edu	37	9	136201322	136201322	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:136201322C>T	ENST00000372022.4	-	2	475	c.210G>A	c.(208-210)ttG>ttA	p.L70L		NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	70						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		ATTTCTCCCCCAAGGACTTGG	0.557000													13	63					0	0	0.000219431	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748225	5748225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:5748225C>T	ENST00000381624.3	+	10	924	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	288						integral to membrane											TTGTTTTCTTCCATTTTTGAA	0.507000													17	56					0	0	0.00074312	0	0
PTPRT	11122	broad.mit.edu	37	20	40735466	40735466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:40735466C>T	ENST00000373198.3	-	25	3651	c.3416G>A	c.(3415-3417)cGt>cAt	p.R1139H	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1116H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1107H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1127H|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1117H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1126H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1120H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1117	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCGGAGCTCACGCACGCAGTT	0.582000													11	59					0	0	0.000978159	0	0
TRPV3	162514	broad.mit.edu	37	17	3417291	3417291	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:3417291G>T	ENST00000301365.4	-	18	2427	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	TRPV3_ENST00000576742.1_Missense_Mutation_p.Q765K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	765						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GAAGAATCTTGGATTTTGTTG	0.343000													9	48					1.12685e-05	9.88129e-05	0.000274275	1	0
ELAVL2	1993	broad.mit.edu	37	9	23765032	23765032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:23765032G>A	ENST00000380110.4	-	2	114	c.47C>T	c.(46-48)tCg>tTg	p.S16L	ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000380117.1_Intron			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	0					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGCTGCCCACGAACCACTTCT	0.463000													6	33					0	0	8.12818e-05	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604640	13604640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:13604640G>A	ENST00000040738.5	-	10	4019	c.3884C>T	c.(3883-3885)tCg>tTg	p.S1295L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1295							DNA binding										TGGATCATACGATTCCCTCAG	0.463000													6	38					0	0	3.59834e-05	0	0
CLCN1	1180	broad.mit.edu	37	7	143027919	143027919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:143027919G>A	ENST00000343257.2	+	8	995	c.908G>A	c.(907-909)tGg>tAg	p.W303*	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	303					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGAACTACTGGAGAGGATTC	0.552000													7	49					0	0	0.000157383	0	0
OR51E1	143503	broad.mit.edu	37	11	4674660	4674660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4674660C>T	ENST00000396952.5	+	2	1554	c.904C>T	c.(904-906)Cga>Tga	p.R302*	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGAGATTCGACAGCGCAT	0.507000													19	73					0	0	0.000175454	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701461	23701461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:23701461G>A	ENST00000397312.2	-	5	903	c.629C>T	c.(628-630)aCc>aTc	p.T210I	ELAVL2_ENST00000223951.6_Missense_Mutation_p.T210I|ELAVL2_ENST00000380110.4_Missense_Mutation_p.T239I|ELAVL2_ENST00000544538.1_Missense_Mutation_p.T210I|ELAVL2_ENST00000380117.1_Missense_Mutation_p.T210I	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	210					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCCTGATTGGTTTTTTGGCT	0.493000													8	88					0	0	0.000274275	0	0
TRIM9	114088	broad.mit.edu	37	14	51477128	51477128	+	Missense_Mutation	SNP	C	C	T	rs142156620		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:51477128C>T	ENST00000298355.3	-	4	2247	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TRIM9_ENST00000338969.5_Missense_Mutation_p.E376K|TRIM9_ENST00000360392.4_Missense_Mutation_p.E376K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	376	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E376K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GGATCATTTTCCTTAATCACC	0.418000													17	64					0	0	0.000175454	0	0
MAPK4	5596	broad.mit.edu	37	18	48190682	48190682	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:48190682G>A	ENST00000400384.2	+	2	1390	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.Q118Q|MAPK4_ENST00000592595.1_Silent_p.Q118Q	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	118	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.Q118Q(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTGGAGCAGGGCACGCTGG	0.612000													6	29					0	0	3.59834e-05	0	0
MED12L	116931	broad.mit.edu	37	3	150911370	150911370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:150911370G>A	ENST00000474524.1	+	14	2100	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MED12L_ENST00000273432.4_Missense_Mutation_p.E548K|MED12L_ENST00000309237.4_Missense_Mutation_p.E723K|MED12L_ENST00000422248.2_Missense_Mutation_p.E688K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	688					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGAAGAGGGAAAAGCCAAG	0.408000													12	68					0	0	0.000151284	0	0
JAK3	3718	broad.mit.edu	37	19	17949183	17949183	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17949183G>A	ENST00000458235.1	-	11	1557	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	JAK3_ENST00000534444.1_Silent_p.I486I|JAK3_ENST00000527670.1_Silent_p.I486I|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	486					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCTGGACCACGATCAGGTTGG	0.493000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								12	69					0	0	0.00010058	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807819	15807819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:15807819G>A	ENST00000550308.1	+	13	1879	c.1499G>A	c.(1498-1500)aGg>aAg	p.R500K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R500K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GAGCCCCGCAGGAAGCTGGAA	0.597000													10	37					0	0	0.000978159	0	0
OR2T1	26696	broad.mit.edu	37	1	248569717	248569717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248569717C>T	ENST00000366474.1	+	1	422	c.422C>T	c.(421-423)aCc>aTc	p.T141I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCAAAGGACCATTTCCTTT	0.478000													17	31					0	0	0.000566183	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265839	22265839	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22265839G>A	ENST00000390430.2	+	0	254																											CTGGAGTTGGGATGCAACTAT	0.468000													8	58					0	0	0.000274275	0	0
ARMC4	55130	broad.mit.edu	37	10	28260161	28260161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:28260161G>A	ENST00000305242.5	-	8	1110	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	ARMC4_ENST00000537576.1_Missense_Mutation_p.R32C|ARMC4_ENST00000239715.3_Missense_Mutation_p.R197C|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	340							binding	p.R340C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGTCTTTGCGGAGGGCAGCT	0.418000													10	30					0	0	0.000978159	0	0
PASD1	139135	broad.mit.edu	37	X	150839561	150839561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:150839561G>A	ENST00000370357.4	+	12	1368	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	375						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGAACTGGAACTGATGAA	0.443000													20	61					0	0	0.000229342	0	0
WDR11	55717	broad.mit.edu	37	10	122624714	122624714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:122624714C>T	ENST00000263461.6	+	6	1115	c.869C>T	c.(868-870)cCa>cTa	p.P290L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	290						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACAGGAGTTCCATTTTTACAG	0.358000													7	51					0	0	8.12818e-05	0	0
DFFB	1677	broad.mit.edu	37	1	3800162	3800162	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:3800162C>T	ENST00000378209.3	+	7	1197	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	292					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTTTTATGGCCTGCTTTTTAC	0.428000													24	76					0	0	0.000878237	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737430	68737430	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:68737430A>C	ENST00000325631.5	+	7	1700	c.1626A>C	c.(1624-1626)agA>agC	p.R542S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R426S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	542					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TAAAGCAAAGAATTCAAGAAT	0.254000													11	52					0	0	0.000978159	0	0
TNXB	7148	broad.mit.edu	37	6	32016248	32016248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32016248G>A	ENST00000375244.3	-	29	10138	c.9937C>T	c.(9937-9939)Cga>Tga	p.R3313*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.R3311*			P22105	TENX_HUMAN	tenascin XB	3358	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGACCGCTCGGAGGTCTCCG	0.667000													23	181					0	0	0.000295444	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209115	140209115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140209115G>A	ENST00000529310.1	+	1	1553	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R480Q|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGAGACGCGGAC	0.647000													18	73					0	0	0.000958276	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22102213G>A	ENST00000542433.1	-	1	883	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000													7	41					0	0	0.000157383	0	0
NOL11	25926	broad.mit.edu	37	17	65714118	65714118	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:65714118C>A	ENST00000535137.1	+	0	58				NOL11_ENST00000253247.4_Missense_Mutation_p.P19T|NOL11_ENST00000581966.1_3'UTR			Q9H8H0	NOL11_HUMAN	nucleolar protein 11							nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGCGCCGGGCCTGAAGGACT	0.567000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	51					1.05317e-09	9.3224e-09	0.000219431	1	0
YPEL5	51646	broad.mit.edu	37	2	30379532	30379532	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:30379532C>T	ENST00000379520.3	+	4	519	c.15C>T	c.(13-15)ttC>ttT	p.F5F	YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000261353.4_Silent_p.F5F|YPEL5_ENST00000402003.3_Silent_p.F5F|YPEL5_ENST00000402708.1_Silent_p.F5F|YPEL5_ENST00000379519.3_Silent_p.F5F	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	5							peptide-methionine-(S)-S-oxide reductase activity	p.F5F(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCAGAATTTTCCTTGATCATA	0.418000													12	95					0	0	0.000219431	0	0
HIPK2	28996	broad.mit.edu	37	7	139315928	139315928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:139315928G>A	ENST00000406875.3	-	4	1424	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	HIPK2_ENST00000428878.2_Missense_Mutation_p.P444S|HIPK2_ENST00000342645.6_Missense_Mutation_p.P444S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	444	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTCCACAAAGGATATGGTGAG	0.502000													6	24					0	0	3.59834e-05	0	0
SYN3	8224	broad.mit.edu	37	22	33327390	33327390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:33327390C>T	ENST00000358763.2	-	4	688	c.446G>A	c.(445-447)gGg>gAg	p.G149E	SYN3_ENST00000332840.5_Missense_Mutation_p.G149E	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	149	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACTTTGGTCCCATTTCTCAC	0.488000													22	50					0	0	0.000375601	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256417	15256417	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:15256417C>T	ENST00000378116.4	-	8	1176	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	390						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCAGTTCCTTCGTGCCGGGGG	0.617000													11	47					0	0	0.000673444	0	0
LMTK2	22853	broad.mit.edu	37	7	97780697	97780697	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:97780697G>T	ENST00000297293.5	+	4	673	c.380G>T	c.(379-381)gGa>gTa	p.G127V	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	127					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTACAGAGGGATTGAAGTCT	0.323000													13	60					7.93312e-07	6.99577e-06	0.000219431	1	0
PACRG	135138	broad.mit.edu	37	6	163483306	163483306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:163483306G>A	ENST00000337019.3	+	4	640	c.416G>A	c.(415-417)gGg>gAg	p.G139E	PACRG_ENST00000366889.2_Missense_Mutation_p.G139E|PACRG_ENST00000366888.2_Missense_Mutation_p.G139E	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	139										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GAACACGGTGGGAACAAGATC	0.428000													6	21					0	0	0.000157383	0	0
CASR	846	broad.mit.edu	37	3	121980683	121980683	+	Silent	SNP	C	C	T	rs148721982		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121980683C>T	ENST00000498619.1	+	4	1239	c.801C>T	c.(799-801)atC>atT	p.I267I	CASR_ENST00000296154.5_Silent_p.I267I|CASR_ENST00000490131.1_Silent_p.I267I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	267					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I267I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAAAGTCATCGTGGTTTTCT	0.527000													25	73					0	0	0.000375601	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:169648776G>A	ENST00000366787.3	-	4	594	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTTGGAGACGATCTCGAACT	0.657000													16	40					0	0	0.00074312	0	0
FAM170A	340069	broad.mit.edu	37	5	118970319	118970319	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:118970319G>A	ENST00000515256.1	+	3	1048	c.876G>A	c.(874-876)gaG>gaA	p.E292E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	292	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						aggaggaagagaaaccagaag	0.517000													7	55					0	0	0.000157383	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092175	151092175	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151092175G>A	ENST00000360243.2	+	3	306	c.39G>A	c.(37-39)gaG>gaA	p.E13E	MAGEA4_ENST00000393921.1_Silent_p.E13E|MAGEA4_ENST00000370337.4_Silent_p.E13E|MAGEA4_ENST00000276344.2_Silent_p.E13E|MAGEA4_ENST00000370335.1_Silent_p.E13E|MAGEA4_ENST00000393920.1_Silent_p.E13E|MAGEA4_ENST00000370340.3_Silent_p.E13E	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	13							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCCTGAGGAAGGCGTTG	0.602000													6	14					0	0	0.000274275	0	0
DDX4	54514	broad.mit.edu	37	5	55075797	55075797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:55075797C>T	ENST00000505374.1	+	8	492	c.400C>T	c.(400-402)Cga>Tga	p.R134*	DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Nonsense_Mutation_p.R114*|DDX4_ENST00000353507.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	134	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAGGCTATCGAGATGGAAA	0.393000													5	30					0	0	0.000602214	0	0
CAMK1G	57172	broad.mit.edu	37	1	209773330	209773330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:209773330G>A	ENST00000009105.1	+	3	340	c.95G>A	c.(94-96)gGa>gAa	p.G32E	CAMK1G_ENST00000361322.2_Missense_Mutation_p.G32E			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	32	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCTCAGAGGAGCTTTCTCA	0.468000													17	25					0	0	0.000566183	0	0
SEPT7P2	641977	broad.mit.edu	37	7	45798762	45798762	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:45798762G>A	ENST00000429741.1	-	0	306																											TTAAAACTTTGGATTGTTCCA	0.383000													6	31					0	0	3.59834e-05	0	0
TNFRSF17	608	broad.mit.edu	37	16	12060121	12060121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:12060121C>T	ENST00000053243.1	+	2	418	c.200C>T	c.(199-201)tCt>tTt	p.S67F	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	67					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTAATAATTTCTTTGGCAGTT	0.373000			T	IL2	intestinal T-cell lymphoma								15	47					0	0	0.000566183	0	0
TNXB	7148	broad.mit.edu	37	6	32016249	32016249	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32016249G>A	ENST00000375244.3	-	29	10137	c.9936C>T	c.(9934-9936)ctC>ctT	p.L3312L	TNXB_ENST00000375247.2_Silent_p.L3310L			P22105	TENX_HUMAN	tenascin XB	3357	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGACCGCTCGGAGGTCTCCGC	0.667000													25	188					0	0	0.00047179	0	0
MYH6	4624	broad.mit.edu	37	14	23871969	23871969	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:23871969G>A	ENST00000405093.3	-	11	1009	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MYH6_ENST00000356287.3_Silent_p.F313F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	313	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGAGACACGAAGGCGTAGT	0.652000													5	13					0	0	3.59834e-05	0	0
NRDE2	55051	broad.mit.edu	37	14	90798277	90798277	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:90798277T>C	ENST00000354366.3	-	0	204				NRDE2_ENST00000357904.3_De_novo_Start_InFrame|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CGTTCTTCTCTATAGGGATGG	0.647000													8	34					0	0	0.000157383	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737574	113737574	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113737574A>G	ENST00000295878.3	-	8	1260	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	KIAA1407_ENST00000545063.1_Silent_p.L203L	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	372										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCCGCTCCAACTTCTGGAAT	0.438000													19	108					0	0	0.000295444	0	0
GPR171	29909	broad.mit.edu	37	3	150916261	150916261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:150916261C>T	ENST00000309180.5	-	3	1143	c.913G>A	c.(913-915)Gag>Aag	p.E305K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	305						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTTGGTCTCTTTAGGTGAG	0.413000													9	42					0	0	0.000442599	0	0
ALMS1	7840	broad.mit.edu	37	2	73678771	73678771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:73678771C>T	ENST00000264448.6	+	8	5225	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S1663L|ALMS1_ENST00000377715.1_Missense_Mutation_p.S1705L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1705	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGACACCATCAGTATCCTCT	0.453000													11	42					0	0	0.000978159	0	0
ATP1A3	478	broad.mit.edu	37	19	42471437	42471437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:42471437C>T	ENST00000545399.1	-	22	3169	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E963K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E993K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E1004K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	993				W -> S (in Ref. 1; AAA51798).	ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E993K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGCGGATTTCGTCGTAGACG	0.652000													5	22					0	0	3.59834e-05	0	0
AFF1	4299	broad.mit.edu	37	4	87968715	87968715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:87968715C>T	ENST00000307808.6	+	3	1427	c.1007C>T	c.(1006-1008)aCc>aTc	p.T336I	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.T343I	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	336						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)		GCCAAGCTCACCAAACTGAAG	0.473000													11	94					0	0	0.00010058	0	0
MYO15A	51168	broad.mit.edu	37	17	18053778	18053778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:18053778G>A	ENST00000205890.5	+	36	7586	c.7248G>A	c.(7246-7248)atG>atA	p.M2416I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2416	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTACCGCATGAAAGGGGGAG	0.602000													6	28					0	0	3.59834e-05	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857444	68857444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:68857444G>A	ENST00000361320.4	+	3	2214	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	546						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAAGTCCTTTGAAACGAATGC	0.458000													5	25					0	0	0.000602214	0	0
SGOL1	151648	broad.mit.edu	37	3	20219763	20219763	+	Splice_Site	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:20219763G>T	ENST00000412997.1	-	4	767	c.416_splice	c.e4+1	p.P139_splice	SGOL1_ENST00000429446.3_Splice_Site_p.P139_splice|SGOL1_ENST00000437051.1_Splice_Site_p.P139_splice|SGOL1_ENST00000442720.1_Splice_Site_p.P139_splice|SGOL1_ENST00000383774.1_Splice_Site_p.P139_splice|SGOL1_ENST00000417364.1_Splice_Site_p.P139_splice|SGOL1_ENST00000306698.2_Splice_Site_p.P139_splice|SGOL1_ENST00000263753.4_Splice_Site_p.P139_splice|SGOL1_ENST00000412868.1_Splice_Site_p.P139_splice|SGOL1_ENST00000421451.1_Splice_Site_p.P139_splice|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Splice_Site_p.P139_splice|SGOL1_ENST00000419233.2_Splice_Site_p.P139_splice|SGOL1_ENST00000425061.1_Splice_Site_p.P139_splice|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Splice_Site_p.P139_splice	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	139	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGATACTAACGGTAAATCCTT	0.303000													8	99					1.12685e-05	9.88129e-05	0.000274275	1	0
COL6A3	1293	broad.mit.edu	37	2	238253407	238253407	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:238253407G>A	ENST00000295550.4	-	36	7706	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	COL6A3_ENST00000409809.1_Silent_p.F2212F|COL6A3_ENST00000346358.4_Silent_p.F2218F|COL6A3_ENST00000353578.4_Silent_p.F2212F|COL6A3_ENST00000347401.3_Silent_p.F2217F|COL6A3_ENST00000472056.1_Silent_p.F1811F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2418	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2418F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCCGGCCGAAAGTGTCTT	0.567000													14	65					0	0	0.000219431	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16505095	16505095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:16505095G>A	ENST00000396652.1	-	3	911	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.R67W			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	67					Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTACTGTTCCGATCCAGTCCA	0.408000													16	63					0	0	0.000175454	0	0
CMYA5	202333	broad.mit.edu	37	5	79027156	79027156	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:79027156C>T	ENST00000446378.2	+	2	2599	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	856						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACACTCTTTCCCACCACACA	0.488000													8	25					0	0	0.000274275	0	0
TRIML1	339976	broad.mit.edu	37	4	189060954	189060954	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:189060954T>A	ENST00000332517.3	+	1	382	c.242T>A	c.(241-243)cTc>cAc	p.L81H		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	81					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCAGGCAGCTCCGGTCCCAG	0.637000													5	34					0	0	0.000602214	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163545	163545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:163545G>A	ENST00000283426.6	+	11	2340	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	764					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGTAGCCACAGAGAAGAAGCT	0.642000													16	43					0	0	0.000308642	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668167	94668167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:94668167C>T	ENST00000260526.6	-	11	1258	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.G359E	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	359					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGCTAATCCGCCACTTGA	0.373000													16	76					0	0	0.00074312	0	0
GRIA3	2892	broad.mit.edu	37	X	122551547	122551547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:122551547C>T	ENST00000264357.5	+	11	2087	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	GRIA3_ENST00000371256.5_Missense_Mutation_p.P599S|GRIA3_ENST00000541091.1_Missense_Mutation_p.P583S|GRIA3_ENST00000371251.1_Missense_Mutation_p.P599S|GRIA3_ENST00000542149.1_Missense_Mutation_p.P599S	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	599					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCTCCTGATCCTCCAAATGA	0.418000													20	18					0	0	0.000175454	0	0
FRY	10129	broad.mit.edu	37	13	32798487	32798487	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:32798487C>T	ENST00000380250.3	+	37	5377	c.4881C>T	c.(4879-4881)ctC>ctT	p.L1627L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGACTATCTCCCGGAGACCA	0.562000													4	29					0	0	0.00024832	0	0
SORL1	6653	broad.mit.edu	37	11	121492969	121492969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:121492969G>A	ENST00000260197.7	+	45	6292	c.6163G>A	c.(6163-6165)Gaa>Aaa	p.E2055K	SORL1_ENST00000525532.1_Missense_Mutation_p.E999K|SORL1_ENST00000527934.1_Missense_Mutation_p.E670K|SORL1_ENST00000532694.1_Missense_Mutation_p.E901K|SORL1_ENST00000534286.1_Missense_Mutation_p.E965K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2055	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTTAATGAAAGCAGGGT	0.363000													10	33					0	0	0.000673444	0	0
LAMP5	24141	broad.mit.edu	37	20	9498701	9498701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:9498701G>A	ENST00000246070.2	+	5	982	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	LAMP5_ENST00000427562.2_Missense_Mutation_p.A120T	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	164						integral to membrane											GAAGCACACAGCCAACTCGCA	0.527000													5	23					0	0	0.000157383	0	0
NPAP1	23742	broad.mit.edu	37	15	24921801	24921801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24921801C>T	ENST00000329468.2	+	1	1261	c.787C>T	c.(787-789)Cct>Tct	p.P263S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AACAGCGCCCCCTGAGCCAGC	0.642000													5	44					0	0	0.000602214	0	0
SYNE2	23224	broad.mit.edu	37	14	64519011	64519011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:64519011C>T	ENST00000358025.3	+	48	8610	c.8380C>T	c.(8380-8382)Cct>Tct	p.P2794S	SYNE2_ENST00000554584.1_Missense_Mutation_p.P2827S|SYNE2_ENST00000344113.4_Missense_Mutation_p.P2794S|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2794					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATAAGGTTCCTAGCCTTAC	0.408000													5	48					0	0	0.000602214	0	0
MYH14	79784	broad.mit.edu	37	19	50730172	50730172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:50730172C>T	ENST00000440075.2	+	8	870	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	MYH14_ENST00000425460.1_Missense_Mutation_p.R275C|MYH14_ENST00000376970.2_Missense_Mutation_p.R267C|MYH14_ENST00000262269.8_Missense_Mutation_p.R275C|MYH14_ENST00000598205.1_Missense_Mutation_p.R275C|MYH14_ENST00000601313.1_Missense_Mutation_p.R275C|MYH14_ENST00000596571.1_Missense_Mutation_p.R267C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	267	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAAATTCATCCGCATCAACTT	0.592000													7	13					0	0	0.000157383	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482212	152482212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:152482212C>T	ENST00000356661.5	-	3	1017	c.799G>A	c.(799-801)Ggt>Agt	p.G267S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	267	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTGGACCCCACAGGAAC	0.552000													14	30					0	0	0.000151284	0	0
KRT77	374454	broad.mit.edu	37	12	53096842	53096842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:53096842C>T	ENST00000341809.3	-	1	405	c.377G>A	c.(376-378)gGc>gAc	p.G126D	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	126	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGACCAAAGCCCCCAAGCCC	0.582000													5	17					0	0	0.000602214	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561548	145561548	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:145561548C>T	ENST00000355594.4	+	10	1323	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	412										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGAAAGATCCAGTATGAAG	0.532000													25	46					0	0	0.00047179	0	0
SFRP2	6423	broad.mit.edu	37	4	154702830	154702830	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:154702830T>C	ENST00000274063.4	-	3	945	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	221	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCTTGTAAATGGTCTTGCTC	0.468000													15	75					0	0	0.000958276	0	0
EQTN	54586	broad.mit.edu	37	9	27284922	27284922	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:27284922C>T	ENST00000380032.3	-	8	767	c.684G>A	c.(682-684)acG>acA	p.T228T	EQTN_ENST00000537675.1_Silent_p.T199T	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		AGTAAGACATCGTGGCCAGCT	0.378000													12	44					0	0	0.000978159	0	0
GABRB2	2561	broad.mit.edu	37	5	160721399	160721399	+	Missense_Mutation	SNP	C	C	T	rs148772321		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:160721399C>T	ENST00000274547.2	-	11	1445	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	GABRB2_ENST00000520240.1_Missense_Mutation_p.E372K|GABRB2_ENST00000353437.6_Missense_Mutation_p.E372K|GABRB2_ENST00000517547.1_Missense_Mutation_p.E212K|GABRB2_ENST00000517901.1_Missense_Mutation_p.E309K|GABRB2_ENST00000393959.1_Missense_Mutation_p.E410K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	410					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTTTATCTCGAGAGTGCTC	0.463000													7	34					0	0	0.000442599	0	0
FAM170A	340069	broad.mit.edu	37	5	118969896	118969896	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:118969896C>T	ENST00000515256.1	+	3	625	c.453C>T	c.(451-453)tcC>tcT	p.S151S				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	151						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTTTGGAGTCCTTAGAAAAGC	0.478000													15	58					0	0	0.00074312	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903125	32903125	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32903125A>C	ENST00000418107.2	-	5	1031	c.769T>G	c.(769-771)Tca>Gca	p.S257A		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	257					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTACCTTCTGAATAATTGGAC	0.413000													8	31					0	0	0.000157383	0	0
VPS26A	9559	broad.mit.edu	37	10	70916813	70916813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:70916813G>A	ENST00000373382.1	+	5	933	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.E94K|VPS26A_ENST00000489794.1_Missense_Mutation_p.E69K|VPS26A_ENST00000546041.1_Missense_Mutation_p.E77K|VPS26A_ENST00000395098.1_Missense_Mutation_p.E94K			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	94					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CCTAGTGAAAGAACTAGCCTT	0.338000													7	43					0	0	0.000157383	0	0
MS4A2	2206	broad.mit.edu	37	11	59863043	59863043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:59863043C>T	ENST00000278888.3	+	7	751	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	217					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCAGAGGATCGTGTTTATGA	0.388000													4	17					0	0	3.59834e-05	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188291	37188291	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:37188291C>T	ENST00000425901.2	+	0	2133					NR_033753.2																						GATGTTAAACCGTCTCCAACC	0.498000													8	49					0	0	0.000442599	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55614869	55614869	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55614869C>T	ENST00000263433.3	-	4	654	c.639G>A	c.(637-639)ctG>ctA	p.L213L	PPP1R12C_ENST00000435544.2_Silent_p.L139L|PPP1R12C_ENST00000376393.2_Silent_p.L213L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGCCCCCATTCAGCCAGCACC	0.617000													4	12					0	0	0.00024832	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021119	142021119	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142021119G>A	ENST00000390381.3	+	0	408																											TGATCAAAACGAGAGGACAGC	0.537000													9	12					0	0	0.000442599	0	0
CDO1	1036	broad.mit.edu	37	5	115151983	115151983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:115151983C>T	ENST00000250535.4	-	1	668	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	38					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	TCGTAGGCTTCCATGATGGCC	0.617000													16	75					0	0	0.000566183	0	0
CXorf67	340602	broad.mit.edu	37	X	51150672	51150672	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:51150672C>T	ENST00000342995.2	+	1	906	c.804C>T	c.(802-804)cgC>cgT	p.R268R						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCCCTGCCCGCCGAGGCCGTG	0.711000													4	4					0	0	0.000602214	0	0
FGF7	2252	broad.mit.edu	37	15	49776595	49776595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:49776595G>A	ENST00000267843.4	+	4	1090	c.479G>A	c.(478-480)gGa>gAa	p.G160E	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACACAACGGAGGGGAAATG	0.353000													5	29					0	0	8.12818e-05	0	0
POLA2	23649	broad.mit.edu	37	11	65046388	65046388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:65046388C>T	ENST00000265465.3	+	6	1180	c.649C>T	c.(649-651)Cga>Tga	p.R217*	POLA2_ENST00000541089.1_Nonsense_Mutation_p.R9*	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	217					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCCAGACATTCGAGAAGGTGA	0.463000													8	53					0	0	0.000157383	0	0
KDM6B	23135	broad.mit.edu	37	17	7748977	7748977	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:7748977C>T	ENST00000254846.5	+	4	494	c.105C>T	c.(103-105)ccC>ccT	p.P35P	KDM6B_ENST00000448097.2_Silent_p.P35P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	35	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGCCTCATCCCCCTCCTCGTA	0.652000													11	73					0	0	0.000151284	0	0
DSP	1832	broad.mit.edu	37	6	7581253	7581253	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:7581253C>T	ENST00000379802.3	+	23	5171	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1610	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCAAGCCATCAAAATCACCA	0.567000													5	43					0	0	0.000602214	0	0
DEFB119	245932	broad.mit.edu	37	20	29965099	29965099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:29965099C>T	ENST00000376321.3	-	2	324	c.205G>A	c.(205-207)Gag>Aag	p.E69K	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	69					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTATTTTCCTCTTTGCCAGAA	0.488000													29	67					0	0	0.000339439	0	0
NRDE2	55051	broad.mit.edu	37	14	90745472	90745472	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:90745472G>A	ENST00000354366.3	-	13	3535	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	NRDE2_ENST00000357904.3_Silent_p.S870S	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TATTTCCTAAGGAAACCTGAG	0.468000													21	77					0	0	0.000175454	0	0
UNC13B	10497	broad.mit.edu	37	9	35295814	35295814	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35295814C>T	ENST00000378495.3	+	8	870	c.648C>T	c.(646-648)ttC>ttT	p.F216F	UNC13B_ENST00000396787.1_Silent_p.F228F|UNC13B_ENST00000378496.4_Silent_p.F216F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	216					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCACCAGTTCCCTGTGCCGG	0.537000													8	37					0	0	0.000157383	0	0
HOXB1	3211	broad.mit.edu	37	17	46607031	46607031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:46607031C>T	ENST00000239174.6	-	2	876	c.784G>A	c.(784-786)Gag>Aag	p.E262K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	262						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTCTCGCTCGCGCTTCTTC	0.632000													19	86					0	0	0.000132079	0	0
BCAS1	8537	broad.mit.edu	37	20	52644981	52644981	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:52644981C>A	ENST00000395961.3	-	4	839	c.673G>T	c.(673-675)Gat>Tat	p.D225Y	BCAS1_ENST00000411563.1_Missense_Mutation_p.D128Y|BCAS1_ENST00000371435.2_Missense_Mutation_p.D225Y|BCAS1_ENST00000371440.3_Missense_Mutation_p.D225Y	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	225						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGAACCTCATCCACCTTGTCT	0.527000													20	126					1.90627e-21	1.69699e-20	0.000229342	1	0
OR2G6	391211	broad.mit.edu	37	1	248685258	248685258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248685258C>T	ENST00000343414.4	+	1	343	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	104					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)			CTCTATGTGGCCATGGGGTTG	0.532000													22	51					0	0	0.00047179	0	0
PRDM10	56980	broad.mit.edu	37	11	129795050	129795050	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:129795050G>A	ENST00000358825.5	-	13	1848	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	PRDM10_ENST00000304538.6_Silent_p.F449F|PRDM10_ENST00000526082.1_Silent_p.F453F|PRDM10_ENST00000360871.3_Silent_p.F535F|PRDM10_ENST00000423662.2_Silent_p.F453F|PRDM10_ENST00000528746.1_Silent_p.F509F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCTTTTCCCGGAAGGCCTTCC	0.502000													21	76					0	0	0.000229342	0	0
SNX15	29907	broad.mit.edu	37	11	64803055	64803055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:64803055C>T	ENST00000377244.3	+	6	714	c.584C>T	c.(583-585)aCc>aTc	p.T195I	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	195					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGTGAGAGCACCGAGGAGGCA	0.612000													17	100					0	0	0.000566183	0	0
CPE	1363	broad.mit.edu	37	4	166418673	166418673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:166418673G>A	ENST00000402744.4	+	9	1622	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	448					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTTGATTTTGAACTGGAGTC	0.284000													23	120					0	0	0.000878237	0	0
NUP153	9972	broad.mit.edu	37	6	17665598	17665598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:17665598G>A	ENST00000262077.2	-	9	1086	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	NUP153_ENST00000537253.1_Missense_Mutation_p.P363S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	363					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTCTGAACAGGAGGATATTGA	0.338000													12	85					0	0	0.000219431	0	0
TRAK1	22906	broad.mit.edu	37	3	42230613	42230613	+	Silent	SNP	C	C	T	rs141503991	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:42230613C>T	ENST00000327628.5	+	6	1087	c.687C>T	c.(685-687)tcC>tcT	p.S229S	TRAK1_ENST00000396175.1_Silent_p.S171S|TRAK1_ENST00000341421.3_Silent_p.S171S|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.S155S	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	229	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TACTTCGATCCGAGGTGATGT	0.493000													6	32					0	0	8.12818e-05	0	0
CR1	1378	broad.mit.edu	37	1	207787797	207787797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:207787797G>A	ENST00000367049.4	+	40	6624	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	CR1_ENST00000400960.2_Missense_Mutation_p.M1758I|CR1_ENST00000367051.1_Missense_Mutation_p.M1758I|CR1_ENST00000367053.1_Missense_Mutation_p.M1758I|CR1_ENST00000367052.1_Missense_Mutation_p.M1758I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1758					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCTGGAATGAAAGCCCTTT	0.408000													19	26					0	0	0.000229342	0	0
TRDV1	28518	broad.mit.edu	37	14	22564645	22564645	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22564645C>T	ENST00000390452.2	+	0	114																											CATCAGTATCCATGCCAGTGA	0.413000													19	93					0	0	0.000175454	0	0
C7	730	broad.mit.edu	37	5	40947853	40947853	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:40947853C>T	ENST00000313164.9	+	8	1247	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	296	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408000													6	43					0	0	3.59834e-05	0	0
JADE2	23338	broad.mit.edu	37	5	133914418	133914418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:133914418G>A	ENST00000395003.1	+	11	1963	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	PHF15_ENST00000361895.2_Missense_Mutation_p.R596Q|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.R639Q	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		595					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAAGGCCCGAGGCCGCACC	0.652000													5	14					0	0	0.000602214	0	0
TENM2	57451	broad.mit.edu	37	5	167645536	167645536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:167645536C>T	ENST00000519204.1	+	22	4395	c.4277C>T	c.(4276-4278)tCa>tTa	p.S1426L	TENM2_ENST00000520394.1_Missense_Mutation_p.S1308L|TENM2_ENST00000545108.1_Missense_Mutation_p.S1546L|TENM2_ENST00000403607.2_Missense_Mutation_p.S1371L|TENM2_ENST00000518659.1_Missense_Mutation_p.S1547L					teneurin transmembrane protein 2																		AATTCCCCATCATCCTTAGCT	0.493000													22	107					0	0	0.00047179	0	0
NEU3	10825	broad.mit.edu	37	11	74716820	74716820	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:74716820C>T	ENST00000294064.4	+	3	1596	c.669C>T	c.(667-669)ttC>ttT	p.F223F	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Silent_p.F114F|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.F223F|NEU3_ENST00000544263.1_Silent_p.F190F	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	223										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TCTTTTGCTTCCAGCTACCAT	0.517000													11	54					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179604105	179604105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179604105C>T	ENST00000589042.1	-	48	14079	c.13855G>A	c.(13855-13857)Gaa>Aaa	p.E4619K	TTN_ENST00000591111.1_Missense_Mutation_p.E4302K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4256K|TTN_ENST00000342175.6_Missense_Mutation_p.E4448K|TTN_ENST00000359218.5_Missense_Mutation_p.E4381K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4302	Ig-like 26.						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)			ATATCACCTTCCTCAGAAACA	0.413000													4	25					0	0	3.59834e-05	0	0
PTPN13	5783	broad.mit.edu	37	4	87690977	87690977	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:87690977T>A	ENST00000436978.1	+	29	5040	c.4560T>A	c.(4558-4560)ttT>ttA	p.F1520L	PTPN13_ENST00000411767.2_Missense_Mutation_p.F1515L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F1324L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F1496L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F1520L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1515	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GATTCAGTTTTTCTCGAGAAG	0.318000													10	40					0	0	0.000978159	0	0
CAPSL	133690	broad.mit.edu	37	5	35910584	35910584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35910584C>T	ENST00000397367.2	-	3	325	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	CAPSL_ENST00000397366.1_Missense_Mutation_p.G67R|CAPSL_ENST00000514524.1_Missense_Mutation_p.G67R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	67	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCATTTAACCCTTTCATAAAT	0.318000													11	69					0	0	0.000978159	0	0
BAG6	7917	broad.mit.edu	37	6	31613319	31613319	+	Silent	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31613319C>A	ENST00000404765.2	-	9	1270	c.981G>T	c.(979-981)ctG>ctT	p.L327L	BAG6_ENST00000362049.6_Silent_p.L327L|BAG6_ENST00000211379.5_Silent_p.L327L|BAG6_ENST00000375976.4_Silent_p.L327L|BAG6_ENST00000439687.2_Silent_p.L327L|BAG6_ENST00000375964.6_Silent_p.L333L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	333	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGGTGTTGCCCAGCAGTCGCA	0.587000													9	248					0.000978159	0.00844315	0.000978159	1	0
STON1	11037	broad.mit.edu	37	2	48808326	48808326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:48808326C>T	ENST00000309835.3	+	1	564	c.554C>T	c.(553-555)cCa>cTa	p.P185L	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P185L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P185L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P185L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P185L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P185L|STON1_ENST00000406226.1_Missense_Mutation_p.P185L|STON1_ENST00000404752.1_Missense_Mutation_p.P185L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTCAAGTCCATTTTGGAAA	0.433000													9	31					0	0	0.000274275	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124435	31124435	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:31124435C>T	ENST00000304166.4	+	8	811	c.522C>T	c.(520-522)atC>atT	p.I174I	ADCYAP1R1_ENST00000409489.1_Silent_p.I174I|ADCYAP1R1_ENST00000396211.2_Silent_p.I174I|ADCYAP1R1_ENST00000409363.1_Silent_p.I153I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	174					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCATGGTCATCCTTTGTCGCT	0.572000													10	39					0	0	0.00010058	0	0
DRD2	1813	broad.mit.edu	37	11	113286168	113286168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:113286168C>T	ENST00000362072.3	-	5	1042	c.698G>A	c.(697-699)aGg>aAg	p.R233K	DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.R233K|DRD2_ENST00000355319.2_Missense_Mutation_p.R233K|DRD2_ENST00000544518.1_Missense_Mutation_p.R232K|DRD2_ENST00000538967.1_Missense_Mutation_p.R233K|DRD2_ENST00000346454.3_Missense_Mutation_p.R233K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	233	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGTGGGCCCTGAAAGCTCG	0.562000													8	58					0	0	0.000673444	0	0
NBEA	26960	broad.mit.edu	37	13	36158098	36158098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:36158098G>A	ENST00000400445.3	+	46	7633	c.7099G>A	c.(7099-7101)Gat>Aat	p.D2367N	NBEA_ENST00000537702.1_Missense_Mutation_p.D160N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2364N|NBEA_ENST00000540320.1_Missense_Mutation_p.D2367N|NBEA_ENST00000310336.4_Missense_Mutation_p.D2367N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2367	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACATGGGAAGATGATCAAAG	0.368000													26	94					0	0	0.000720815	0	0
OR4F6	390648	broad.mit.edu	37	15	102346092	102346092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:102346092C>T	ENST00000328882.4	+	1	191	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CGTTTACAGTCCCCCATGTAC	0.463000													74	153					0	0	0.000781405	0	0
OVGP1	5016	broad.mit.edu	37	1	111965562	111965562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:111965562G>A	ENST00000369732.3	-	6	650	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	OVGP1_ENST00000540696.1_Missense_Mutation_p.R139C|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	199					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCTAGAAAGCGCACATCATAG	0.562000													20	83					0	0	0.000375601	0	0
CEP192	55125	broad.mit.edu	37	18	13056570	13056570	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:13056570C>T	ENST00000506447.1	+	19	4061	c.3981C>T	c.(3979-3981)tcC>tcT	p.S1327S	CEP192_ENST00000325971.8_Silent_p.S731S|CEP192_ENST00000430049.2_Silent_p.S852S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	922										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTACCTCTTCCCTCTGTAACC	0.458000													13	66					0	0	0.00010058	0	0
GABRA3	2556	broad.mit.edu	37	X	151336803	151336803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151336803G>A	ENST00000370314.4	-	10	1614	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	GABRA3_ENST00000535043.1_Missense_Mutation_p.S459F|GABRA3_ENST00000370311.1_Missense_Mutation_p.S459F|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	459					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.S459F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGATGCGGGAAATTTTGTC	0.498000													12	27					0	0	0.000151284	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164382	150164382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150164382C>T	ENST00000307271.3	+	2	1170	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	199						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AACGGAGGACCCTATCATGTG	0.413000													18	40					0	0	0.000175454	0	0
OR5M1	390168	broad.mit.edu	37	11	56380970	56380970	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:56380970G>A	ENST00000526538.1	-	1	8	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTGGTTTGGGGAGAACATCT	0.413000													5	28					0	0	0.000602214	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033543	45033543	+	RNA	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:45033543A>C	ENST00000454753.1	-	0	268							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGTCCCGGCACCTGACTTCA	0.627000													11	91					0	0	0.00010058	0	0
RIT2	6014	broad.mit.edu	37	18	40554088	40554088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:40554088C>T	ENST00000589109.1	-	3	356	c.185G>A	c.(184-186)aGg>aAg	p.R62K	RIT2_ENST00000326695.5_Missense_Mutation_p.R62K|RIT2_ENST00000282028.4_Missense_Mutation_p.R62K|RIT2_ENST00000590910.1_Missense_Mutation_p.R62K	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	62					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTGTCAATCCTGACCTGGGT	0.363000													4	12					0	0	0.00024832	0	0
BCL9L	283149	broad.mit.edu	37	11	118769574	118769574	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118769574G>A	ENST00000334801.3	-	8	5014	c.4050C>T	c.(4048-4050)ccC>ccT	p.P1350P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1350	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGAGCCTTGGGGGGCTGGT	0.622000													11	46					0	0	0.000978159	0	0
TLR4	7099	broad.mit.edu	37	9	120476546	120476546	+	Missense_Mutation	SNP	C	C	T	rs56225594		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:120476546C>T	ENST00000355622.6	+	3	2241	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.P674S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	714	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGACTTTATTCCCGGTGTGGC	0.493000													5	28					0	0	3.59834e-05	0	0
AKR1C4	1109	broad.mit.edu	37	10	5238875	5238875	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:5238875C>T	ENST00000380448.1	+	3	298	c.45C>T	c.(43-45)ttC>ttT	p.F15F	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Silent_p.F15F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	15					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	ATGGTCACTTCATGCCCGTAT	0.418000													9	50					0	0	0.000673444	0	0
ITGA7	3679	broad.mit.edu	37	12	56087071	56087071	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:56087071G>A	ENST00000257880.7	-	21	2917	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L	ITGA7_ENST00000553804.1_Silent_p.L860L|ITGA7_ENST00000555728.1_Silent_p.L900L|ITGA7_ENST00000394229.2_Silent_p.L856L|ITGA7_ENST00000347027.6_Silent_p.L850L|ITGA7_ENST00000257879.6_Silent_p.L856L|ITGA7_ENST00000452168.2_Silent_p.L763L|ITGA7_ENST00000394230.2_Silent_p.L860L			Q13683	ITA7_HUMAN	integrin, alpha 7	900					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGAGCCCAGGGTTCTGAGC	0.488000													11	40					0	0	0.000978159	0	0
BAZ1A	11177	broad.mit.edu	37	14	35263973	35263973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:35263973G>A	ENST00000360310.1	-	11	1912	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	BAZ1A_ENST00000382422.2_Missense_Mutation_p.P449S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.P449S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	449	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACTCCATCAGGAAACTCATCT	0.368000													11	75					0	0	0.000978159	0	0
COL8A1	1295	broad.mit.edu	37	3	99513167	99513167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:99513167G>A	ENST00000261037.3	+	5	802	c.422G>A	c.(421-423)gGg>gAg	p.G141E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G141E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	141	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCAGGTCATGGGATACCTGGA	0.567000													5	30					0	0	0.000602214	0	0
TDRD1	56165	broad.mit.edu	37	10	115978251	115978251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:115978251G>A	ENST00000251864.2	+	18	2555	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E	TDRD1_ENST00000369282.1_Missense_Mutation_p.G801E|TDRD1_ENST00000422662.1_Missense_Mutation_p.G405E|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.G801E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	801	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTGGATTATGGAAACATCGAA	0.383000													5	55					0	0	0.000602214	0	0
USP28	57646	broad.mit.edu	37	11	113672311	113672311	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:113672311G>A	ENST00000003302.4	-	24	3020	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	USP28_ENST00000260188.5_Silent_p.I952I|USP28_ENST00000544967.1_Silent_p.I660I|USP28_ENST00000545540.1_Silent_p.I827I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	984					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GAATGCAGGGGATGATCAGTT	0.403000													12	32					0	0	0.00010058	0	0
C1orf172	126695	broad.mit.edu	37	1	27278454	27278454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:27278454G>A	ENST00000320567.5	-	2	506	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	140										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGTGCACGATCAGGGCTG	0.632000													5	28					0	0	3.59834e-05	0	0
GLMN	11146	broad.mit.edu	37	1	92754650	92754650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:92754650C>T	ENST00000370360.3	-	6	534	c.453G>A	c.(451-453)tgG>tgA	p.W151*	GLMN_ENST00000534881.1_Nonsense_Mutation_p.W151*	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	151					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATAGCTGATTCCAAAGGGTAG	0.373000									Multiple Glomus Tumors (of the Skin), Familial				13	43					0	0	0.00010058	0	0
L2HGDH	79944	broad.mit.edu	37	14	50750674	50750674	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:50750674G>A	ENST00000267436.4	-	5	1015	c.618C>T	c.(616-618)ttC>ttT	p.F206F	L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000261699.4_Silent_p.F206F|L2HGDH_ENST00000555423.1_Silent_p.F206F|L2HGDH_ENST00000421284.3_Silent_p.F206F			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	206					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTGCTTCTTGGAAATCCTGGG	0.408000													11	62					0	0	0.000151284	0	0
STRIP1	85369	broad.mit.edu	37	1	110596512	110596512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:110596512C>T	ENST00000369795.3	+	21	2514	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	STRIP1_ENST00000369796.1_Missense_Mutation_p.S736F	NM_033088.2	NP_149079.2			striatin interacting protein 1																		AAGCCCATTTCCTGGGAAGAG	0.527000											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	52					0	0	0.000978159	0	0
CHST15	51363	broad.mit.edu	37	10	125805244	125805244	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:125805244C>A	ENST00000346248.5	-	2	1127	c.485G>T	c.(484-486)aGg>aTg	p.R162M	CHST15_ENST00000421115.1_Missense_Mutation_p.R162M|CHST15_ENST00000435907.1_Missense_Mutation_p.R162M	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	162					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAACTCAATCCTAGTTGTGAT	0.393000													9	262					0.000673444	0.00583444	0.000673444	1	0
CNBP	7555	broad.mit.edu	37	3	128890366	128890366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:128890366G>A	ENST00000422453.2	-	3	300	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CNBP_ENST00000441626.2_Missense_Mutation_p.S47F|CNBP_ENST00000446936.2_Missense_Mutation_p.S40F|CNBP_ENST00000500450.2_Intron|CNBP_ENST00000504813.1_Intron|CNBP_ENST00000451728.2_Missense_Mutation_p.S47F|CNBP_ENST00000502976.1_Missense_Mutation_p.S40F	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	47					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AAGAGACGAGGAAACAAACTG	0.383000													8	43					0	0	0.000157383	0	0
GABBR2	9568	broad.mit.edu	37	9	101073422	101073422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:101073422C>T	ENST00000259455.2	-	14	2418	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	653					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCAGATGGTCATATGGGTGT	0.552000													7	34					0	0	0.000274275	0	0
OR51A4	401666	broad.mit.edu	37	11	4967848	4967848	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4967848G>A	ENST00000380373.2	-	1	508	c.483C>T	c.(481-483)ttC>ttT	p.F161F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTGAAAGGGAAGGGAAGAA	0.433000													19	133					0	0	0.000175454	0	0
PTENP1	11191	broad.mit.edu	37	9	33675964	33675964	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:33675964G>A	ENST00000532280.1	-	0	1533					NR_023917.1																						TGTGGGTCCTGAATTGGAGGA	0.443000													16	62					0	0	0.00074312	0	0
OR9A4	130075	broad.mit.edu	37	7	141618858	141618858	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141618858C>T	ENST00000548136.1	+	1	242	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGTATTTCTTCCTCGGCCACC	0.463000													9	90					0	0	0.000442599	0	0
MTF1	4520	broad.mit.edu	37	1	38288241	38288241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:38288241G>A	ENST00000373036.4	-	9	1459	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	440	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGAGCAGACGGAGCTGAGGC	0.587000													9	34					0	0	0.000673444	0	0
CIITA	4261	broad.mit.edu	37	16	11001701	11001701	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:11001701G>A	ENST00000324288.8	+	11	2485	c.2352G>A	c.(2350-2352)agG>agA	p.R784R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	784					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGGTGGACAGGAAGCAGAAGG	0.706000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	41					0	0	0.000673444	0	0
LRP5	4041	broad.mit.edu	37	11	68216416	68216416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:68216416C>T	ENST00000294304.7	+	23	4832	c.4726C>T	c.(4726-4728)Cca>Tca	p.P1576S	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1576	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCCACCCCCACCCACGCC	0.657000													8	21					0	0	0.000673444	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580416	140580416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140580416C>T	ENST00000354757.3	+	1	1069	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		357	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCCAATCCCAGAAAATAC	0.423000													10	74					0	0	0.000673444	0	0
TTLL10	254173	broad.mit.edu	37	1	1117765	1117765	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:1117765C>T	ENST00000379290.1	+	10	1028	c.855C>T	c.(853-855)ttC>ttT	p.F285F	TTLL10_ENST00000379288.3_Silent_p.F212F|TTLL10_ENST00000379289.1_Silent_p.F285F			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	285	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGAGTTTTTCCCAGAGACCT	0.622000													17	48					0	0	0.00074312	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32150514	32150514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:32150514G>A	ENST00000375250.5	-	4	998	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.Q253*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.Q253*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.Q253*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.Q253*	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	253					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGAGCAGACTGGGATATTTTC	0.428000													9	40					0	0	0.000274275	0	0
DOCK3	1795	broad.mit.edu	37	3	51264839	51264839	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:51264839G>A	ENST00000266037.9	+	16	1526	c.1503G>A	c.(1501-1503)cgG>cgA	p.R501R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	501	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGTTCCGGGGCTCCCACC	0.478000													7	42					0	0	8.12818e-05	0	0
JMJD4	65094	broad.mit.edu	37	1	227920604	227920604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:227920604G>A	ENST00000366758.3	-	5	1084	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Intron|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	362										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTGCCAGTCGGGCATGGAGTC	0.627000													10	33					0	0	0.000442599	0	0
CNGB3	54714	broad.mit.edu	37	8	87660058	87660058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:87660058G>A	ENST00000320005.5	-	8	1008	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	321					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTAAACATTGGATTAAACCCA	0.303000													8	53					0	0	0.000978159	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	Silent	SNP	C	C	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:82635163C>G	ENST00000439287.4	-	9	1506	c.1407G>C	c.(1405-1407)gcG>gcC	p.A469A		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN		469								p.A469A(10)		endometrium(1)|kidney(4)	5						CCCTGTTCTCCGCAGCCCGAA	0.478000													7	11					0	0	8.12818e-05	0	0
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161200969C>T	ENST00000367983.4	-	7	1043	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	NR1I3_ENST00000412844.2_Missense_Mutation_p.R225Q|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000437437.2_Missense_Mutation_p.R221Q|NR1I3_ENST00000442691.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000506209.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000428574.2_Missense_Mutation_p.R250Q|NR1I3_ENST00000367981.3_Missense_Mutation_p.R221Q|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000515452.1_3'UTR|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000508740.1_Missense_Mutation_p.R221Q|NR1I3_ENST00000367980.2_Missense_Mutation_p.R254Q|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.R254Q|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000515621.1_Missense_Mutation_p.R175Q|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511676.1_Missense_Mutation_p.R221Q			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532000													12	24					0	0	0.000151284	0	0
FGGY	55277	broad.mit.edu	37	1	60073477	60073477	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:60073477C>T	ENST00000371218.4	+	9	1090	c.906C>T	c.(904-906)atC>atT	p.I302I	FGGY_ENST00000371210.1_Silent_p.I3I|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Silent_p.I302I|FGGY_ENST00000371212.1_Silent_p.I214I	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	302					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTTTCCAGATCAGCAAAGACC	0.463000													8	56					0	0	0.000157383	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870576	140870576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140870576C>T	ENST00000252087.1	+	1	1769	c.1769C>T	c.(1768-1770)aCc>aTc	p.T590I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		590	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGGTCACCAAGGTGACA	0.607000													5	48					0	0	0.000602214	0	0
CDH2	1000	broad.mit.edu	37	18	25565542	25565542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:25565542G>A	ENST00000269141.3	-	12	2348	c.1925C>T	c.(1924-1926)cCt>cTt	p.P642L	CDH2_ENST00000399380.3_Missense_Mutation_p.P611L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	642	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAGATAAAGGAAGATCAAA	0.368000													12	43					0	0	0.000219431	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610232	47610232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:47610232G>A	ENST00000371891.3	+	8	939	c.908G>A	c.(907-909)gGg>gAg	p.G303E	CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G303E|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGAGAATGGGAGCATCTTG	0.532000													8	72					0	0	0.000442599	0	0
MIER2	54531	broad.mit.edu	37	19	308851	308851	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:308851G>A	ENST00000264819.4	-	11	1069	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTGGGCGAAGTAGTCGT	0.672000													7	35					0	0	8.12818e-05	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:40366764G>A	ENST00000406785.1	-	7	2403	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1_ENST00000542024.1_Silent_p.F738F|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	774					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502000													10	38					0	0	0.000978159	0	0
ASTL	431705	broad.mit.edu	37	2	96803328	96803328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:96803328G>A	ENST00000342380.2	-	2	166	c.167C>T	c.(166-168)cCt>cTt	p.P56L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	56					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GTTAATTGCAGGAATGTCCTT	0.597000													10	74					0	0	0.000673444	0	0
STK33	65975	broad.mit.edu	37	11	8435184	8435184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:8435184C>T	ENST00000447869.1	-	11	2120	c.1202G>A	c.(1201-1203)tGg>tAg	p.W401*	STK33_ENST00000534493.1_Nonsense_Mutation_p.W360*|STK33_ENST00000396673.1_Intron|STK33_ENST00000396672.1_Nonsense_Mutation_p.W401*|STK33_ENST00000358872.3_Nonsense_Mutation_p.W214*|STK33_ENST00000315204.1_Nonsense_Mutation_p.W401*|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	401						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTATTTTTCCATTCCTTCAT	0.358000													7	53					0	0	8.12818e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152328532	152328532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152328532G>A	ENST00000388718.5	-	3	1802	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	577	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGCCAGTGGATTGACCTGA	0.522000													41	114					0	0	0.000319135	0	0
OR14A16	284532	broad.mit.edu	37	1	247978629	247978629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247978629C>T	ENST00000357627.1	-	1	402	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D135Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGCTCCTGTCCATGATGACA	0.517000													14	36					0	0	0.000566183	0	0
FLRT1	23769	broad.mit.edu	37	11	63884172	63884172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:63884172G>A	ENST00000246841.3	+	2	1476	c.433G>A	c.(433-435)Gac>Aac	p.D145N	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	117					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CATTGCCAGGGACTCGCTGGC	0.607000													5	29					0	0	3.59834e-05	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211769	90211769	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:90211769C>T	ENST00000390277.2	+	0	127																											TTCTCTTCCTCCTGCTACTCT	0.517000													9	55					0	0	0.000673444	0	0
ANK3	288	broad.mit.edu	37	10	61835456	61835456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61835456G>A	ENST00000280772.1	-	37	5374	c.5183C>T	c.(5182-5184)tCc>tTc	p.S1728F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1728	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAAGTTGAGGATGATGGATA	0.438000													4	31					0	0	0.000602214	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447635	96447635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96447635G>A	ENST00000285979.6	+	2	476	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E93K	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCATGGAGAGGAGTTTTCTGG	0.443000													7	51					0	0	0.000157383	0	0
TCOF1	6949	broad.mit.edu	37	5	149755020	149755020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:149755020C>T	ENST00000451292.1	+	11	1715	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V	TCOF1_ENST00000439160.2_Missense_Mutation_p.A536V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A459V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A459V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A536V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A536V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A536V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A536V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	536					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCCTCAGCCCAGGTGGGG	0.662000													6	35					0	0	3.59834e-05	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969271	140969271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:140969271C>T	ENST00000298296.1	+	4	598	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	200	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAATATCAAGCAAAAGA	0.458000													22	43					0	0	0.00106085	0	0
BSDC1	55108	broad.mit.edu	37	1	32849465	32849465	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32849465G>C	ENST00000341071.7	-	4	385	c.374C>G	c.(373-375)cCg>cGg	p.P125R	BSDC1_ENST00000449308.1_Missense_Mutation_p.P108R|BSDC1_ENST00000413080.1_Missense_Mutation_p.P108R|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000446293.2_Missense_Mutation_p.P125R|BSDC1_ENST00000455895.2_Missense_Mutation_p.P108R			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	108							protein binding	p.P125L(1)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTGCCAGACGGTGTGCCCAT	0.522000													5	68					0	0	0.000602214	0	0
SCN1A	6323	broad.mit.edu	37	2	166930023	166930023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:166930023G>A	ENST00000423058.2	-	1	126	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	SCN1A_ENST00000375405.3_Missense_Mutation_p.P37S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.P37S|SCN1A_ENST00000409050.1_Missense_Mutation_p.P37S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	37						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTGGTTTGGGATTCTTTGCC	0.438000													23	140					0	0	0.000586117	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718884	142718884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:142718884G>A	ENST00000381779.4	-	2	266	c.41C>T	c.(40-42)tCt>tTt	p.S14F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S14F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S14F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	14						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGTCGAAGAAATCAGGGC	0.378000													8	13					0	0	0.000157383	0	0
RNF130	55819	broad.mit.edu	37	5	179467603	179467603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:179467603G>A	ENST00000522208.2	-	2	310	c.292C>T	c.(292-294)Cct>Tct	p.P98S	RNF130_ENST00000261947.4_Missense_Mutation_p.P98S|RNF130_ENST00000521389.1_Missense_Mutation_p.P98S			Q86XS8	GOLI_HUMAN	ring finger protein 130	98					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATATTAGGAGGGACAAAGAAC	0.413000													8	42					0	0	0.000442599	0	0
TSEN54	283989	broad.mit.edu	37	17	73515125	73515125	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:73515125C>A	ENST00000333213.6	+	6	554	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	173					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGATTCCAACCAAGGTAAATC	0.458000													8	111					6.40141e-05	0.000560288	0.000978159	1	0
RIMBP2	23504	broad.mit.edu	37	12	130884333	130884333	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:130884333A>G	ENST00000261655.4	-	18	3186	c.3023T>C	c.(3022-3024)cTt>cCt	p.L1008P		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1008	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGAGGGCACAAGGCCTTTCTG	0.458000													4	34					0	0	0.00024832	0	0
OR2B11	127623	broad.mit.edu	37	1	247614572	247614572	+	Missense_Mutation	SNP	C	C	T	rs149924080		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247614572C>T	ENST00000318749.6	-	1	736	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R238Q(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGCCTTGTGTCGTCCCTTGGA	0.567000													15	35					0	0	0.000308642	0	0
MYH4	4622	broad.mit.edu	37	17	10357143	10357143	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10357143G>A	ENST00000255381.2	-	23	2861	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	917					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTCAAGTTGGATTTTGGTTT	0.413000													27	168					0	0	0.00106085	0	0
KIAA1841	84542	broad.mit.edu	37	2	61345224	61345224	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:61345224C>T	ENST00000402291.1	+	20	2242	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	KIAA1841_ENST00000356719.2_Silent_p.D667D|KIAA1841_ENST00000453873.1_Silent_p.D667D|KIAA1841_ENST00000295031.5_Silent_p.D667D	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	667										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGATCTGGACCGAGTCAAGT	0.358000													3	11					0	0	0.00024832	0	0
DSP	1832	broad.mit.edu	37	6	7585740	7585740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:7585740G>A	ENST00000379802.3	+	24	8586	c.8245G>A	c.(8245-8247)Gaa>Aaa	p.E2749K	DSP_ENST00000418664.2_Missense_Mutation_p.E2150K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2749	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCACCGAAGAAGCCATCCG	0.557000													13	75					0	0	0.000219431	0	0
PDCD11	22984	broad.mit.edu	37	10	105162956	105162956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105162956C>T	ENST00000369797.3	+	4	410	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	106	S1 motif 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCCCAATGGCCTCCAGGGCTT	0.468000													18	129					0	0	0.000132079	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566161	138566161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:138566161G>A	ENST00000440172.1	-	11	4250	c.4202C>T	c.(4201-4203)cCt>cTt	p.P1401L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1401L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1351L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1401						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTCTTGGAAGGGATCTTTGA	0.473000			O	BRAF	pilocytic astrocytoma								17	97					0	0	0.000566183	0	0
ALPK3	57538	broad.mit.edu	37	15	85411358	85411358	+	Missense_Mutation	SNP	G	G	A	rs34851446		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:85411358G>A	ENST00000258888.5	+	14	5562	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1799	Alpha-type protein kinase.				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)			GGGCCTCAAGGAAAGCTGCTT	0.637000													13	96					0	0	0.000422831	0	0
NEB	4703	broad.mit.edu	37	2	152404824	152404824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152404824C>T	ENST00000427231.2	-	131	20357	c.20155G>A	c.(20155-20157)Gag>Aag	p.E6719K	NEB_ENST00000397345.3_Missense_Mutation_p.E6719K|NEB_ENST00000409198.1_Missense_Mutation_p.E5018K|NEB_ENST00000172853.10_Missense_Mutation_p.E5018K|NEB_ENST00000604864.1_Missense_Mutation_p.E6719K|NEB_ENST00000603639.1_Missense_Mutation_p.E6719K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5018					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGGTACCTCGCTGGTAACA	0.403000													6	30					0	0	8.12818e-05	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221247	43221247	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:43221247C>T	ENST00000255226.6	+	8	1881	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	SLC14A2_ENST00000586448.1_Silent_p.I355I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	355						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCATCGCCATCGGAG	0.552000													10	29					0	0	0.000442599	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247512	55247512	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55247512C>T	ENST00000291860.1	+	8	1200	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	394						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGAGAAAAATCACTCGCCCTT	0.507000													18	58					0	0	0.00047179	0	0
KDM4C	23081	broad.mit.edu	37	9	6888029	6888029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:6888029C>T	ENST00000381309.3	+	7	1314	c.749C>T	c.(748-750)tCa>tTa	p.S250L	KDM4C_ENST00000381306.3_Missense_Mutation_p.S250L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000536108.1_Missense_Mutation_p.S69L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S69L|KDM4C_ENST00000535193.1_Missense_Mutation_p.S272L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S250L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	250	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTTCTCCATCAGTATTGAAG	0.338000													9	54					0	0	0.000978159	0	0
FRYL	285527	broad.mit.edu	37	4	48542951	48542951	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:48542951C>A	ENST00000537810.1	-	46	6318	c.5714G>T	c.(5713-5715)gGa>gTa	p.G1905V	FRYL_ENST00000503238.1_Missense_Mutation_p.G1905V|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.G1905V			O94915	FRYL_HUMAN	FRY-like	1905					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATACTTGTTTCCCATTATAGG	0.333000													8	26					2.17888e-05	0.000190886	0.000442599	1	0
SCN10A	6336	broad.mit.edu	37	3	38739953	38739953	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38739953C>T	ENST00000449082.2	-	27	4757	c.4758G>A	c.(4756-4758)ctG>ctA	p.L1586L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1586					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCTCGGATCAGTCTGAGGA	0.527000													7	39					0	0	8.12818e-05	0	0
ACADM	34	broad.mit.edu	37	1	76198395	76198395	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:76198395C>G	ENST00000370841.4	+	3	622	c.185C>G	c.(184-186)cCa>cGa	p.P62R	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.P66R|ACADM_ENST00000370834.5_Missense_Mutation_p.P62R|ACADM_ENST00000541113.1_Missense_Mutation_p.P26R	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	62					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						GAAATCATCCCAGTGGCTGCA	0.328000													4	99					0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55587287	55587287	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:55587287C>A	ENST00000373965.2	-	33	4648	c.4254G>T	c.(4252-4254)aaG>aaT	p.K1418N	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1411N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1408N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1386N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1340N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1411N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1371N|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1413N|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1418N|PCDH15_ENST00000409834.1_Missense_Mutation_p.K1022N|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1411N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1411					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCGTGCAGTCTTTGTACACT	0.527000										HNSCC(58;0.16)			17	65					5.03518e-11	4.46123e-10	0.000958276	1	0
ST18	9705	broad.mit.edu	37	8	53076592	53076592	+	Nonsense_Mutation	SNP	G	G	A	rs149497456	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:53076592G>A	ENST00000276480.7	-	13	2037	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAATCAAGCTGATTTTTATCC	0.448000													8	81					0	0	0.000978159	0	0
CCSER1	401145	broad.mit.edu	37	4	91229510	91229510	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:91229510A>G	ENST00000509176.1	+	2	363	c.75A>G	c.(73-75)agA>agG	p.R25R	CCSER1_ENST00000432775.2_Silent_p.R25R|CCSER1_ENST00000333691.8_Silent_p.R25R	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TTAACAGAAGACATGATTCTC	0.463000													5	19					0	0	0.000602214	0	0
OPTC	26254	broad.mit.edu	37	1	203465257	203465257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:203465257G>A	ENST00000367222.2	+	2	240	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	42						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGATTCCTTTGAAGTTCTGCC	0.532000													12	20					0	0	0.000151284	0	0
EDAR	10913	broad.mit.edu	37	2	109524406	109524406	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109524406G>A	ENST00000409271.1	-	10	1412	c.969C>T	c.(967-969)gcC>gcT	p.A323A	EDAR_ENST00000258443.2_Silent_p.A291A|EDAR_ENST00000376651.1_Silent_p.A323A			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	291					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCTTGTCAGGGGCGGGCTCCT	0.617000													5	19					0	0	3.59834e-05	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130042	129130042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:129130042C>T	ENST00000505956.1	-	5	1156	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E332K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTGCCCACTTCCTCCATCTCC	0.637000													4	11					0	0	0.00024832	0	0
LETM1	3954	broad.mit.edu	37	4	1834655	1834655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1834655C>T	ENST00000302787.2	-	6	1192	c.896G>A	c.(895-897)aGg>aAg	p.R299K		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	299	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ATTGCTGGGCCTCTCCCCTGT	0.597000													5	55					0	0	0.000602214	0	0
PSD4	23550	broad.mit.edu	37	2	113943574	113943574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:113943574G>A	ENST00000245796.6	+	5	1565	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	PSD4_ENST00000441564.2_Missense_Mutation_p.G429D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	457					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGCCCTGGTCCCAGGCCC	0.622000													6	28					0	0	8.12818e-05	0	0
DGKE	8526	broad.mit.edu	37	17	54925305	54925305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:54925305C>T	ENST00000284061.3	+	5	947	c.767C>T	c.(766-768)cCt>cTt	p.P256L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	256	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACTAAAACTCCTCCTATCAAA	0.388000													5	55					0	0	0.000157383	0	0
FREM2	341640	broad.mit.edu	37	13	39263573	39263573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:39263573C>T	ENST00000280481.7	+	1	2308	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	698					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCTGTGGATCGCCTCCCTCC	0.557000													9	44					0	0	0.000274275	0	0
MVP	9961	broad.mit.edu	37	16	29848075	29848075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:29848075C>T	ENST00000452209.2	+	4	291	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S	MVP_ENST00000395353.1_Silent_p.F235F|MVP_ENST00000357402.5_Silent_p.F235F			Q14764	MVP_HUMAN	major vault protein	880					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGCGGAACTTCCGGGACTTCA	0.627000													9	24					0	0	0.000274275	0	0
AAED1	195827	broad.mit.edu	37	9	99413953	99413953	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:99413953G>A	ENST00000375234.3	-	3	302	c.303C>T	c.(301-303)taC>taT	p.Y101Y	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	101							antioxidant activity|oxidoreductase activity										CAATATGATGGTAGGATGACT	0.299000													9	91					0	0	0.000978159	0	0
SPEF2	79925	broad.mit.edu	37	5	35700732	35700732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35700732C>T	ENST00000440995.2	+	16	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.S754F|SPEF2_ENST00000356031.3_Missense_Mutation_p.S759F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	759					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCACAAAAATCCACATTGGCT	0.388000													5	27					0	0	0.000602214	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504785	151504785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:151504785G>A	ENST00000317605.4	+	1	1709	c.604G>A	c.(604-606)Gag>Aag	p.E202K	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	202					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGGGTGGCCGAGGTCAAGGC	0.647000													8	39					0	0	0.000157383	0	0
CPVL	54504	broad.mit.edu	37	7	29152324	29152324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:29152324G>A	ENST00000409850.1	-	7	930	c.284C>T	c.(283-285)gCt>gTt	p.A95V	CPVL_ENST00000396276.3_Missense_Mutation_p.A95V|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Missense_Mutation_p.A95V			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	95					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ACCTACCTGAGCTGGGAAGAA	0.483000													6	22					0	0	0.000157383	0	0
RGS8	85397	broad.mit.edu	37	1	182635159	182635159	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:182635159C>T	ENST00000483095.2	-	5	395	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Silent_p.S46S|RGS8_ENST00000258302.4_Silent_p.S64S|RGS8_ENST00000367556.1_Silent_p.S46S			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	46					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTTCTTCTGTCGATAATCTCC	0.388000													26	100					0	0	0.000586117	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315535	107315535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107315535G>A	ENST00000265715.3	+	6	970	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	249					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACTACAATGGAGTTCTCTCT	0.448000									Pendred syndrome				15	110					0	0	0.000308642	0	0
NTN4	59277	broad.mit.edu	37	12	96076520	96076520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96076520C>T	ENST00000343702.4	-	7	1921	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	NTN4_ENST00000538383.1_Nonsense_Mutation_p.W454*|NTN4_ENST00000344911.4_Nonsense_Mutation_p.W454*|NTN4_ENST00000553059.1_Nonsense_Mutation_p.W491*	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	491					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCGCATCCTCCCACTCCCAGG	0.463000													10	53					0	0	0.000673444	0	0
ILKAP	80895	broad.mit.edu	37	2	239092683	239092683	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:239092683A>G	ENST00000254654.3	-	7	779	c.604T>C	c.(604-606)Ttc>Ctc	p.F202L		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	202	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTTTAAGGAACTCTTCATCA	0.393000													13	88					0	0	0.000151284	0	0
PLXNC1	10154	broad.mit.edu	37	12	94654615	94654615	+	Splice_Site	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:94654615G>A	ENST00000258526.4	+	20	3698	c.3450_splice	c.e20+1	p.R1150_splice	PLXNC1_ENST00000547057.1_Splice_Site_p.R197_splice|PLXNC1_ENST00000551495.1_3'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1150					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGATTTCTCCGGGTAAGTGTC	0.483000													4	19					0	0	0.00024832	0	0
CDH8	1006	broad.mit.edu	37	16	61687944	61687944	+	Missense_Mutation	SNP	A	A	T	rs143586940	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:61687944A>T	ENST00000577390.1	-	12	2922	c.1968T>A	c.(1966-1968)gaT>gaA	p.D656E	CDH8_ENST00000577730.1_Missense_Mutation_p.D656E|CDH8_ENST00000299345.6_Missense_Mutation_p.D656E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	656					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CGTCTTCATCATCTTTGATAA	0.403000													14	62					0	0	0.000219431	0	0
PDE1B	5153	broad.mit.edu	37	12	54966983	54966983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:54966983C>T	ENST00000243052.3	+	8	1223	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	PDE1B_ENST00000538346.1_Missense_Mutation_p.H222Y|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.H243Y	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	263	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGCAGCTATCCATGATTATGA	0.572000													15	77					0	0	0.000132079	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202640	140202640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140202640G>A	ENST00000529859.1	+	1	1280	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R427Q|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R427Q|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCGCGGGACGGGGGC	0.642000													23	93					0	0	0.000586117	0	0
MAVS	57506	broad.mit.edu	37	20	3842943	3842943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:3842943C>T	ENST00000428216.2	+	5	636	c.508C>T	c.(508-510)Cca>Tca	p.P170S	MAVS_ENST00000358134.6_Missense_Mutation_p.P112L|MAVS_ENST00000416600.2_Missense_Mutation_p.P29S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	170					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAGAGCCATCCCAAGGAATCC	0.587000													4	32					0	0	0.000602214	0	0
KLHL22	84861	broad.mit.edu	37	22	20819739	20819739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:20819739G>A	ENST00000328879.4	-	4	674	c.518C>T	c.(517-519)aCc>aTc	p.T173I	KLHL22_ENST00000440659.2_Missense_Mutation_p.T30I	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	173					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGATATAGGTGTCCAGTTG	0.527000													32	49					0	0	0.00111076	0	0
AKR1B15	441282	broad.mit.edu	37	7	134250298	134250298	+	Splice_Site	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:134250298G>A	ENST00000423958.1	+	1	66	c.66_splice	c.e1+1	p.R22_splice	AKR1B15_ENST00000457545.2_Intron			C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	0							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCACTTGGAGGGTAAATATGC	0.502000													18	20					0	0	0.000175454	0	0
KCND2	3751	broad.mit.edu	37	7	119915147	119915147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:119915147C>T	ENST00000331113.4	+	1	1426	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	154					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GACGCGGATACCGACACCGCT	0.622000													6	58					0	0	3.59834e-05	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642866	127642866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:127642866G>A	ENST00000405109.1	+	2	1429	c.962G>A	c.(961-963)gGa>gAa	p.G321E	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.G321E|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	321										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGGTTTAGGAACTGTGTGT	0.403000													11	57					0	0	0.000978159	0	0
SERPING1	710	broad.mit.edu	37	11	57379302	57379302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:57379302C>T	ENST00000403558.1	+	6	1637	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	SERPING1_ENST00000378323.4_Missense_Mutation_p.A386V|SERPING1_ENST00000340687.6_Splice_Site_p.A344_splice|SERPING1_ENST00000378324.2_Missense_Mutation_p.A329V|SERPING1_ENST00000278407.4_Missense_Mutation_p.A381V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	381					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GTTTTCAAGGCCATCATGGAG	0.507000													20	52					0	0	0.000132079	0	0
BBS12	166379	broad.mit.edu	37	4	123663309	123663309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:123663309C>T	ENST00000542236.1	+	3	643	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	BBS12_ENST00000314218.3_Missense_Mutation_p.L88F	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	88					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATCAGTACTCTTTTGTTTCT	0.393000									Bardet-Biedl syndrome				15	61					0	0	0.000566183	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601914	58601914	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58601914C>T	ENST00000287275.1	-	6	1263	c.873G>A	c.(871-873)aaG>aaA	p.K291K	GLYATL2_ENST00000532258.1_Silent_p.K291K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	291						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AACAATATTTCTTGGGGGTGC	0.363000													7	28					0	0	8.12818e-05	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255912	179255912	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179255912T>G	ENST00000190611.4	+	22	2790	c.2414T>G	c.(2413-2415)gTg>gGg	p.V805G	OSBPL6_ENST00000359685.3_Missense_Mutation_p.V769G|OSBPL6_ENST00000315022.2_Missense_Mutation_p.V809G|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V830G|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V769G|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V774G	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	805					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACTGTGGTGTGGCCCCCTCT	0.527000													7	43					0	0	0.000274275	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27820138	27820138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:27820138C>T	ENST00000318304.8	+	13	1365	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.S344F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.S208F|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.S330F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	361					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AATTCCAGTTCCATCTCCTCT	0.413000													6	29					0	0	3.59834e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152188266	152188266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152188266G>A	ENST00000368801.2	-	3	5914	c.5839C>T	c.(5839-5841)Cct>Tct	p.P1947S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1947					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGGGCTAGGAGACTGGCCA	0.607000													9	265					0	0	0.00010058	0	0
COL22A1	169044	broad.mit.edu	37	8	139672713	139672713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:139672713C>T	ENST00000303045.6	-	44	3697	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1064E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1084	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGGATTTCCTGGTGCACC	0.463000										HNSCC(7;0.00092)			7	37					0	0	0.000157383	0	0
ADH1B	125	broad.mit.edu	37	4	100239275	100239275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:100239275G>A	ENST00000305046.8	-	3	254	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_Missense_Mutation_p.P23S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	63					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCACAGGAAGGGGGGTC	0.507000													6	44					0	0	3.59834e-05	0	0
PET112	5188	broad.mit.edu	37	4	152609888	152609888	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:152609888G>T	ENST00000263985.6	-	10	1265	c.1225C>A	c.(1225-1227)Caa>Aaa	p.Q409K	PET112_ENST00000515812.1_Missense_Mutation_p.Q368K	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	409						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCACATTTTGGAAGAACTCC	0.393000													16	74					9.7654e-05	0.000853926	0.000958276	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88890083	88890083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:88890083C>T	ENST00000303236.3	-	6	1344	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G197E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	348					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATGACTTTCCCATCCTTAAG	0.353000													27	187					0	0	0.000279167	0	0
OR51F1	256892	broad.mit.edu	37	11	4790235	4790235	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4790235T>A	ENST00000380383.1	-	1	933	c.934A>T	c.(934-936)Atg>Ttg	p.M312L	OR51F1_ENST00000343430.3_Missense_Mutation_p.M305L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	305						integral to membrane	olfactory receptor activity	p.M305V(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACTGAGCATAGCCTTGCGG	0.418000													8	33					0	0	0.000274275	0	0
MORC1	27136	broad.mit.edu	37	3	108773644	108773644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108773644G>A	ENST00000232603.5	-	14	1343	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.Q421*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	421					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTATACTCTTGGACATTGAGA	0.408000													5	60					0	0	3.59834e-05	0	0
AQP12B	653437	broad.mit.edu	37	2	241622137	241622137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:241622137C>T	ENST00000407834.3	-	1	180	c.118G>A	c.(118-120)Gag>Aag	p.E40K		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	40						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCCACCGCCTCCCGGGCGAAG	0.682000													7	16					0	0	8.12818e-05	0	0
AGRN	375790	broad.mit.edu	37	1	982006	982006	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:982006C>T	ENST00000379370.2	+	18	3191	c.3141C>T	c.(3139-3141)tcC>tcT	p.S1047S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1047	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCACCCTCCCCTGCACCCA	0.692000													5	14					0	0	3.59834e-05	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713863	142713863	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:142713863C>T	ENST00000369381.2	-	0	742																											TCTTTCATTTCTTCCTGATTA	0.299000													5	52					0	0	0.000157383	0	0
OLAH	55301	broad.mit.edu	37	10	15115166	15115166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:15115166G>A	ENST00000378217.3	+	9	1082	c.895G>A	c.(895-897)Gag>Aag	p.E299K	OLAH_ENST00000378228.3_Missense_Mutation_p.E246K|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.E299K(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCTGCGAACGAGAAATTAAT	0.328000													10	43					0	0	0.000978159	0	0
PRKACA	5566	broad.mit.edu	37	19	14213635	14213635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:14213635G>A	ENST00000308677.4	-	4	525	c.329C>T	c.(328-330)tCc>tTc	p.S110F	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.S102F|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	110	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACCTTGAAGGAGAACTCGAG	0.582000													7	54					0	0	0.000157383	0	0
SPEN	23013	broad.mit.edu	37	1	16258959	16258959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:16258959C>A	ENST00000375759.3	+	11	6428	c.6224C>A	c.(6223-6225)tCa>tAa	p.S2075*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2075					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACTCCAAATCAAAGAGAGGA	0.488000													16	97					1.15088e-07	1.01681e-06	0.000422831	1	0
AOX1	316	broad.mit.edu	37	2	201469527	201469527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:201469527C>T	ENST00000374700.2	+	9	1019	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	260	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATTCAAGTATCCCCAGGCTCC	0.488000													6	21					0	0	8.12818e-05	0	0
TNNI3K	51086	broad.mit.edu	37	1	74954902	74954902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:74954902G>A	ENST00000370891.2	+	24	2470	c.2454G>A	c.(2452-2454)atG>atA	p.M818I	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.M818I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.M717I	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.M717I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AAGTTGTCATGAAGTTAGAAG	0.363000													11	44					0	0	0.000673444	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385615	22385615	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:22385615G>A	ENST00000390282.2	+	0	164				PRAMEF24P_ENST00000337471.4_RNA																							GCCTCCCTGGGAGCCTCGGTC	0.592000													9	20					0	0	0.000442599	0	0
MYH4	4622	broad.mit.edu	37	17	10358013	10358013	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10358013C>T	ENST00000255381.2	-	22	2660	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	850					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCATCTCCTTCTCTGTCTCTG	0.453000													17	74					0	0	0.000958276	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862519	25862519	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:25862519A>T	ENST00000397060.4	-	3	354	c.245T>A	c.(244-246)gTg>gAg	p.V82E	SLC17A3_ENST00000361703.6_Missense_Mutation_p.V82E|SLC17A3_ENST00000360657.3_Missense_Mutation_p.V82E	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	82					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AACAGGCAGCACCTCAGAGGA	0.428000													9	32					0	0	0.000673444	0	0
SCN8A	6334	broad.mit.edu	37	12	52159652	52159652	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:52159652C>T	ENST00000354534.5	+	16	2920	c.2742C>T	c.(2740-2742)ctC>ctT	p.L914L	SCN8A_ENST00000550891.1_Silent_p.L914L|SCN8A_ENST00000545061.1_Silent_p.L914L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	914					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTGTGAACTCCCTCGCTGGC	0.488000													19	73					0	0	0.000958276	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664130	25664130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:25664130C>T	ENST00000382051.3	+	2	58	c.8C>T	c.(7-9)cCc>cTc	p.P3L	SLC34A2_ENST00000503434.1_Missense_Mutation_p.P3L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P3L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	3					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCATGGCTCCCTGGCCTGAA	0.532000			T	ROS1	NSCLC								4	34					0	0	0.00024832	0	0
HCN3	57657	broad.mit.edu	37	1	155257825	155257825	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:155257825C>T	ENST00000368358.3	+	8	1904	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	632						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCTCTGCCCCTCTCCCCTG	0.662000													5	18					0	0	3.59834e-05	0	0
DCHS1	8642	broad.mit.edu	37	11	6662608	6662608	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6662608G>A	ENST00000299441.3	-	2	648	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	79	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAGAGATGAAGTACATGA	0.627000													6	16					0	0	8.12818e-05	0	0
C2	717	broad.mit.edu	37	6	31902144	31902144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31902144C>T	ENST00000418949.2	+	6	967	c.917C>T	c.(916-918)cCc>cTc	p.P306L	C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000299367.5_Intron|CFB_ENST00000556679.1_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGTCTCCTTCCCCTCCTCAGA	0.498000													13	62					0	0	0.000151284	0	0
KRT32	3882	broad.mit.edu	37	17	39623149	39623149	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:39623149G>A	ENST00000225899.3	-	1	532	c.429C>T	c.(427-429)taC>taT	p.Y143Y		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	143	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AATGAGACTGGTAGTCAGGAG	0.587000													7	25					0	0	0.000274275	0	0
FAM47B	170062	broad.mit.edu	37	X	34961618	34961618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:34961618C>T	ENST00000329357.5	+	1	706	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	224	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCAGTCTCCGCCCAGAGCC	0.657000													6	15					0	0	3.59834e-05	0	0
RET	5979	broad.mit.edu	37	10	43619124	43619124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:43619124C>T	ENST00000355710.3	+	17	3039	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	RET_ENST00000340058.5_Missense_Mutation_p.S936F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	936	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGCAGATGGTCTTTTGGTGTC	0.617000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	81					0	0	0.00010058	0	0
PCLO	27445	broad.mit.edu	37	7	82579979	82579979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:82579979C>T	ENST00000423517.2	-	6	10262	c.9925G>A	c.(9925-9927)Gag>Aag	p.E3309K	PCLO_ENST00000333891.8_Missense_Mutation_p.E3309K|PCLO_ENST00000437081.1_Missense_Mutation_p.E29K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3240					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTTTTGCTCCTCCAGCTGC	0.493000													33	83					0	0	0.000409698	0	0
KLK15	55554	broad.mit.edu	37	19	51330339	51330339	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:51330339G>A	ENST00000326856.4	-	4	402	c.273C>T	c.(271-273)gtC>gtT	p.V91V	KLK15_ENST00000596931.1_Silent_p.V91V|KLK15_ENST00000416184.1_Silent_p.V92V|KLK15_ENST00000301421.2_Silent_p.V92V|KLK15_ENST00000598239.1_Silent_p.V92V	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGTGTGGAATGACCCGAGACG	0.662000													9	44					0	0	0.000442599	0	0
OR2G6	391211	broad.mit.edu	37	1	248685416	248685416	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248685416C>T	ENST00000343414.4	+	1	501	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	157					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)			CATCACCTCCCTAATTCAGTG	0.577000													5	22					0	0	3.59834e-05	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786297	27786297	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:27786297C>T	ENST00000261588.4	+	24	4360	c.4341C>T	c.(4339-4341)tcC>tcT	p.S1447S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1447										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCGTGAACTCCCTGGAGGGTG	0.617000													11	36					0	0	0.00010058	0	0
WNT3	7473	broad.mit.edu	37	17	44845865	44845865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:44845865C>T	ENST00000225512.5	-	4	1051	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	297					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CAAGTCCGGTCCCTTGTGCCA	0.592000													16	84					0	0	0.00074312	0	0
IDO2	169355	broad.mit.edu	37	8	39872789	39872789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:39872789G>A	ENST00000502986.2	+	11	1173	c.931G>A	c.(931-933)Gat>Aat	p.D311N	IDO2_ENST00000389060.4_Missense_Mutation_p.D298N|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	298					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGAATGAGGGATTACATGCC	0.458000													6	26					0	0	8.12818e-05	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421633	115421633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:115421633C>T	ENST00000337530.6	+	4	1731	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	KIAA1958_ENST00000536272.1_Missense_Mutation_p.H507Y	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	479										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CACCTCGCTCCATGCTATTCG	0.547000													8	31					0	0	0.000157383	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672853	141672853	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141672853A>C	ENST00000547270.1	-	1	720	c.637T>G	c.(637-639)Tct>Gct	p.S213A		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	213					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCATCCCAGAAGAAACCAGA	0.463000													6	40					0	0	8.12818e-05	0	0
SNX20	124460	broad.mit.edu	37	16	50711414	50711414	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:50711414C>T	ENST00000300590.3	-	2	196	c.24G>A	c.(22-24)ggG>ggA	p.G8G	SNX20_ENST00000423026.2_Silent_p.G8G|SNX20_ENST00000330943.4_Silent_p.G8G	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	8					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGCCAGGGCTCCCAGGGTGCT	0.657000													7	45					0	0	0.000157383	0	0
DHTKD1	55526	broad.mit.edu	37	10	12159748	12159748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:12159748C>T	ENST00000263035.4	+	14	2458	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	799					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCTGTGGATCCAAAAAAGTAA	0.408000													35	236					0	0	0.000953801	0	0
XYLB	9942	broad.mit.edu	37	3	38411643	38411643	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38411643C>A	ENST00000207870.3	+	9	833	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	XYLB_ENST00000542835.1_Missense_Mutation_p.P111Q	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	248					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTTAGCCCACCAGTACCATCA	0.502000													10	36					3.07112e-06	2.70062e-05	0.000978159	1	0
ASCC1	51008	broad.mit.edu	37	10	73887915	73887915	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:73887915C>T	ENST00000342444.4	-	10	1067	c.966G>A	c.(964-966)agG>agA	p.R322R	ASCC1_ENST00000394915.3_Silent_p.R322R|ASCC1_ENST00000317126.4_Silent_p.R294R|ASCC1_ENST00000394919.1_Silent_p.R294R|ASCC1_ENST00000545550.1_Silent_p.R316R|ASCC1_ENST00000317168.6_Silent_p.R294R	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						AGAGATTGTACCTGCCTTCAG	0.363000													9	58					0	0	0.00010058	0	0
FAM209B	388799	broad.mit.edu	37	20	55111330	55111330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:55111330G>A	ENST00000371325.1	+	2	448	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	118						integral to membrane											TACCTTAAACGAACTTGAAGT	0.443000													19	64					0	0	0.000958276	0	0
SGK2	10110	broad.mit.edu	37	20	42195112	42195112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:42195112G>A	ENST00000341458.4	+	1	376	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000423407.3_Splice_Site|SGK2_ENST00000373100.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000373092.3_Splice_Site	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	53					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTCCCCCCAGAGCTGCCTGA	0.617000													6	54					0	0	0.000157383	0	0
MYO5B	4645	broad.mit.edu	37	18	47421396	47421396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:47421396C>T	ENST00000285039.7	-	22	3259	c.2960G>A	c.(2959-2961)aGc>aAc	p.S987N	MYO5B_ENST00000324581.6_Missense_Mutation_p.S128N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	987					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTGCGCAGGCTCTCCACCTC	0.612000													5	29					0	0	8.12818e-05	0	0
OR8B8	26493	broad.mit.edu	37	11	124310158	124310158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:124310158G>A	ENST00000328064.2	-	1	896	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATAGAATAGGGAAGACACCTT	0.413000													9	33					0	0	0.000274275	0	0
GPR35	2859	broad.mit.edu	37	2	241569699	241569699	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:241569699C>T	ENST00000319838.5	+	6	1272	c.330C>T	c.(328-330)atC>atT	p.I110I	GPR35_ENST00000407714.1_Silent_p.I110I|GPR35_ENST00000403859.1_Silent_p.I110I|GPR35_ENST00000430267.1_Silent_p.I110I|GPR35_ENST00000438013.2_Silent_p.I141I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	110						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCACGGCCATCGCCGTGGACC	0.697000													7	20					0	0	0.000274275	0	0
OR5H6	79295	broad.mit.edu	37	3	97983289	97983289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:97983289C>T	ENST00000383696.2	+	1	202	c.161C>T	c.(160-162)aCc>aTc	p.T54I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCTCATCACCATCATGGGG	0.408000													10	79					0	0	0.000673444	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712497	12712497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:12712497G>A	ENST00000380682.1	+	9	1363	c.857G>A	c.(856-858)cGa>cAa	p.R286Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	286	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R286Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTCTTTTCCGAATTAGCTTC	0.428000													11	16					0	0	0.000978159	0	0
TRIM48	79097	broad.mit.edu	37	11	55032413	55032413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55032413G>A	ENST00000417545.2	+	2	168	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	12						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCCAGAGGGAACTCACCTG	0.483000													9	49					0	0	0.000274275	0	0
PPOX	5498	broad.mit.edu	37	1	161137200	161137200	+	Silent	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161137200C>A	ENST00000367999.4	+	4	528	c.262C>A	c.(262-264)Cgg>Agg	p.R88R	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.R88R	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	88					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCCTGTCCGGGGAGACCA	0.577000													13	39					2.23348e-06	1.96589e-05	0.000422831	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAG	0.368000	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)	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				26	39					0	0	0.000878237	0	0
TTC27	55622	broad.mit.edu	37	2	33036214	33036214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:33036214G>A	ENST00000317907.4	+	17	2353	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	708							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTGACAAATGATGGAGAAAT	0.458000													12	30					0	0	0.000219431	0	0
BSN	8927	broad.mit.edu	37	3	49691254	49691254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:49691254G>A	ENST00000296452.4	+	5	4379	c.4265G>A	c.(4264-4266)aGc>aAc	p.S1422N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1422					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TATGGACACAGCCCAACCACT	0.592000													16	62					0	0	0.000175454	0	0
ADCY8	114	broad.mit.edu	37	8	131922098	131922098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:131922098C>T	ENST00000286355.5	-	6	3588	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R499K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	499					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.R499M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGTTTTGTCCTTGACCGCAC	0.458000										HNSCC(32;0.087)			5	33					0	0	8.12818e-05	0	0
FLT4	2324	broad.mit.edu	37	5	180051011	180051011	+	Missense_Mutation	SNP	G	G	A	rs146167161	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:180051011G>A	ENST00000261937.6	-	11	1550	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	FLT4_ENST00000502649.1_Missense_Mutation_p.A491V|FLT4_ENST00000393347.3_Missense_Mutation_p.A491V|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	491	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGTCACCGCCCTCCAGTC	0.637000													7	43					0	0	0.000157383	0	0
KCNK17	89822	broad.mit.edu	37	6	39271779	39271779	+	Silent	SNP	G	G	A	rs140940240	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:39271779G>A	ENST00000453413.2	-	4	782	c.642C>T	c.(640-642)ttC>ttT	p.F214F	KCNK17_ENST00000373231.4_Silent_p.F214F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGATGAAGGCGAAGTAGAAGC	0.632000													5	51					0	0	0.000602214	0	0
ZNF574	64763	broad.mit.edu	37	19	42583936	42583936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:42583936C>T	ENST00000600245.1	+	2	1833	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	ZNF574_ENST00000359044.4_Missense_Mutation_p.S393L|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.S483L			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCTCTGCATTCATGTCCATGT	0.592000													11	65					0	0	0.000978159	0	0
APOB	338	broad.mit.edu	37	2	21233592	21233592	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:21233592G>T	ENST00000233242.1	-	26	6275	c.6148C>A	c.(6148-6150)Caa>Aaa	p.Q2050K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2050	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAAATTCTTGGGGCTTCTCA	0.378000													9	295					0.000442599	0.00383804	0.000442599	1	0
NLRP4	147945	broad.mit.edu	37	19	56369493	56369493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56369493C>T	ENST00000301295.6	+	3	1156	c.734C>T	c.(733-735)tCg>tTg	p.S245L	NLRP4_ENST00000587891.1_Missense_Mutation_p.S170L|NLRP4_ENST00000346986.5_Missense_Mutation_p.S245L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	245	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACCCGATTCGGATCTGTGT	0.567000													21	57					0	0	0.000229342	0	0
RNF219	79596	broad.mit.edu	37	13	79190253	79190253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:79190253G>A	ENST00000282003.6	-	6	1701	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	548	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCTGTTGTCTGACTCTGACAT	0.423000													19	102					0	0	0.000132079	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:20521064C>T	ENST00000504154.1	+	12	1370	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F|SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	373					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000													9	54					0	0	0.000673444	0	0
CKAP5	9793	broad.mit.edu	37	11	46800125	46800125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:46800125G>A	ENST00000529230.1	-	21	2504	c.2458C>T	c.(2458-2460)Cca>Tca	p.P820S	CKAP5_ENST00000312055.5_Missense_Mutation_p.P820S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P820S|CKAP5_ENST00000354558.3_Missense_Mutation_p.P820S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	820					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTCTGGTTGGAGCAGGTGGA	0.428000													15	47					0	0	0.00074312	0	0
CST8	10047	broad.mit.edu	37	20	23472382	23472382	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:23472382G>A	ENST00000246012.1	+	2	435	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACCCAAAAAAGAATGAGACAG	0.532000													8	48					0	0	0.000274275	0	0
DHRS7	51635	broad.mit.edu	37	14	60616224	60616224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:60616224C>T	ENST00000216500.5	-	7	1274	c.819G>A	c.(817-819)atG>atA	p.M273I	PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.M273I|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.M223I			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	273							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGCTGATTAACATCAGCCGCA	0.403000													8	46					0	0	0.000274275	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768692	140768692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140768692C>T	ENST00000519479.1	+	1	1241	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGAATCCAGAGTACAAT	0.433000													19	122					0	0	0.000958276	0	0
SLC5A12	159963	broad.mit.edu	37	11	26694959	26694959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:26694959C>T	ENST00000396005.3	-	14	2006	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	566					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGCTCTGTCCCACTGTCATG	0.413000													6	34					0	0	8.12818e-05	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801557	140801557	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140801557A>T	ENST00000398587.2	+	1	796	c.763A>T	c.(763-765)Aac>Tac	p.N255Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.N255Y|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCAGAAAACATCAGCTC	0.483000													26	128					0	0	0.00106085	0	0
PTPRM	5797	broad.mit.edu	37	18	8379258	8379258	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:8379258C>T	ENST00000332175.8	+	26	4704	c.3667C>T	c.(3667-3669)Ctg>Ttg	p.L1223L	PTPRM_ENST00000580170.1_Silent_p.L1236L|PTPRM_ENST00000400053.4_Silent_p.L1161L|PTPRM_ENST00000444013.1_Silent_p.L1010L|PTPRM_ENST00000400060.4_Silent_p.L1237L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1223	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CATGGACATCCTGCCCCCAGA	0.597000													6	24					0	0	3.59834e-05	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537223	42537223	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:42537223G>A	ENST00000435101.1	-	0	234				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CACACTCAGGGGGATGATGTC	0.602000													5	9					0	0	0.000602214	0	0
XRN1	54464	broad.mit.edu	37	3	142089409	142089409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:142089409G>A	ENST00000264951.4	-	27	3239	c.3122C>T	c.(3121-3123)aCt>aTt	p.T1041I	XRN1_ENST00000392981.2_Missense_Mutation_p.T1041I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1041					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACGAGATAAAGTACTGACAGG	0.313000													10	34					0	0	0.000673444	0	0
ZNF80	7634	broad.mit.edu	37	3	113955646	113955646	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113955646G>A	ENST00000482457.2	-	1	779	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F92F(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGGGTCGAACGAAGTCGACCT	0.537000													4	14					0	0	0.00024832	0	0
NFASC	23114	broad.mit.edu	37	1	204942512	204942512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:204942512G>A	ENST00000367172.4	+	12	1572	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	NFASC_ENST00000404076.1_Missense_Mutation_p.G409D|NFASC_ENST00000404907.1_Missense_Mutation_p.G426D|NFASC_ENST00000513543.1_Missense_Mutation_p.G426D|NFASC_ENST00000338515.6_Missense_Mutation_p.G415D|NFASC_ENST00000367170.4_Missense_Mutation_p.G415D|NFASC_ENST00000338586.6_Missense_Mutation_p.G415D|NFASC_ENST00000339876.6_Missense_Mutation_p.G415D|NFASC_ENST00000367171.4_Missense_Mutation_p.G415D|NFASC_ENST00000539706.1_Missense_Mutation_p.G426D|NFASC_ENST00000360049.4_Missense_Mutation_p.G426D|NFASC_ENST00000401399.1_Missense_Mutation_p.G415D|NFASC_ENST00000403080.1_Missense_Mutation_p.G415D|NFASC_ENST00000367169.4_Missense_Mutation_p.G415D			O94856	NFASC_HUMAN	neurofascin	415	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGAGCATGGCTACCTGCTG	0.607000													4	16					0	0	0.00024832	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491171	100491171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:100491171G>A	ENST00000279907.7	-	6	853	c.641C>T	c.(640-642)tCa>tTa	p.S214L	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S214L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	214										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTGATTTTTGATTGGTTGGT	0.338000													9	24					0	0	0.000274275	0	0
ENKD1	84080	broad.mit.edu	37	16	67698988	67698988	+	Silent	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:67698988G>T	ENST00000243878.4	-	3	685	c.364C>A	c.(364-366)Cgg>Agg	p.R122R	ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Silent_p.R122R	NM_032140.1	NP_115516.1			enkurin domain containing 1																		CCCTGCTCCCGGCTGCGCTCC	0.612000													16	101					8.60227e-14	7.64339e-13	0.000422831	1	0
MUC13	56667	broad.mit.edu	37	3	124627012	124627012	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:124627012C>A	ENST00000311075.3	-	11	1556	c.1518G>T	c.(1516-1518)atG>atT	p.M506I		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	506						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAGGGCGGGGCATGCTGCTGT	0.517000													6	23					2.0095e-06	1.7704e-05	8.12818e-05	1	0
SCFD1	23256	broad.mit.edu	37	14	31191117	31191117	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:31191117C>T	ENST00000458591.2	+	22	1991	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	SCFD1_ENST00000421551.3_Silent_p.F529F|SCFD1_ENST00000541123.1_Silent_p.F403F|SCFD1_ENST00000396629.2_Silent_p.F496F|SCFD1_ENST00000544052.2_Silent_p.F521F	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	588					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAAATCCATTCCAAGAGGTAA	0.333000													10	76					0	0	0.000673444	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													4	18					0	0	3.59834e-05	0	0
ZBED2	79413	broad.mit.edu	37	3	111312559	111312559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:111312559C>T	ENST00000317012.4	-	2	1498	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	164							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACTGCCCTTTCCCTCCTAAGC	0.607000													17	50					0	0	0.000958276	0	0
HTT	3064	broad.mit.edu	37	4	3123101	3123101	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:3123101C>T	ENST00000355072.5	+	9	1360	c.1215C>T	c.(1213-1215)acC>acT	p.T405T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	405					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGCAGCTCACCGCTGCTAAGG	0.547000													9	23					0	0	0.000442599	0	0
MAATS1	89876	broad.mit.edu	37	3	119451185	119451185	+	Silent	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:119451185T>C	ENST00000273390.5	+	9	1140	c.1063T>C	c.(1063-1065)Ttg>Ctg	p.L355L		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		AGAAGGGAAGTTGGAGAGAAG	0.363000													23	94					0	0	0.000720815	0	0
GABRA6	2559	broad.mit.edu	37	5	161116664	161116664	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:161116664C>T	ENST00000523217.1	+	6	764	c.522C>T	c.(520-522)atC>atT	p.I174I	GABRA6_ENST00000274545.5_Silent_p.I184I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	184					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGTGAAATCATATATACGT	0.343000										TCGA Ovarian(5;0.080)			4	16					0	0	0.00024832	0	0
CLDN2	9075	broad.mit.edu	37	X	106171884	106171884	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:106171884G>A	ENST00000541806.1	+	2	945	c.426G>A	c.(424-426)ggG>ggA	p.G142G	CLDN2_ENST00000540876.1_Silent_p.G142G|CLDN2_ENST00000336803.1_Silent_p.G142G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	142					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATCTTCATGGGATCCTACGGG	0.502000													21	33					0	0	0.00047179	0	0
ARMC12	221481	broad.mit.edu	37	6	35715079	35715079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:35715079G>A	ENST00000373866.3	+	4	508	c.486G>A	c.(484-486)tgG>tgA	p.W162*	ARMC12_ENST00000373869.3_Nonsense_Mutation_p.W162*|ARMC12_ENST00000288065.2_Nonsense_Mutation_p.W189*			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	162							binding										CCACCATCTGGGACACGGAAC	0.532000													8	67					0	0	0.000978159	0	0
IL18R1	8809	broad.mit.edu	37	2	103006665	103006665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:103006665G>A	ENST00000409599.1	+	10	1455	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E367K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	367					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAGAAGAGATGAAACATTAAC	0.333000													11	52					0	0	0.000978159	0	0
PTCD1	26024	broad.mit.edu	37	7	99017659	99017659	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99017659C>T	ENST00000292478.4	-	8	2284	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	PTCD1_ENST00000555673.1_Silent_p.R727R|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.R727R	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGGCTTGGTCCGGAACTTCT	0.617000													9	105					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179647604	179647604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179647604C>T	ENST00000589042.1	-	18	3253	c.3029G>A	c.(3028-3030)aGc>aAc	p.S1010N	TTN_ENST00000591111.1_Missense_Mutation_p.S1010N|TTN_ENST00000342992.6_Missense_Mutation_p.S1010N|TTN_ENST00000460472.2_Missense_Mutation_p.S964N|TTN_ENST00000342175.6_Missense_Mutation_p.S964N|TTN_ENST00000359218.5_Missense_Mutation_p.S964N|TTN_ENST00000360870.5_Missense_Mutation_p.S1010N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1010	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATCGCCCGCTGTCTTCCGC	0.498000													8	19					0	0	0.000274275	0	0
CD163L1	283316	broad.mit.edu	37	12	7550882	7550882	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7550882C>T	ENST00000313599.3	-	7	1764	c.1707G>A	c.(1705-1707)gaG>gaA	p.E569E	CD163L1_ENST00000396630.1_Silent_p.E569E|CD163L1_ENST00000416109.2_Silent_p.E579E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	569	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAATCACATCCTCTCTGTGTA	0.403000													8	41					0	0	0.000157383	0	0
THNSL1	79896	broad.mit.edu	37	10	25314260	25314260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:25314260C>T	ENST00000524413.1	+	3	2455	c.2108C>T	c.(2107-2109)cCa>cTa	p.P703L	THNSL1_ENST00000376356.4_Missense_Mutation_p.P703L			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	703					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GCATTACCTCCACTGCATGAG	0.403000													8	33					0	0	0.000157383	0	0
ADAM28	10863	broad.mit.edu	37	8	24199170	24199170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:24199170G>A	ENST00000265769.4	+	16	1840	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G324E	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	577	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCTGGAAAGGACGGATAGTG	0.428000													18	74					0	0	0.000132079	0	0
DMGDH	29958	broad.mit.edu	37	5	78347271	78347271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:78347271G>A	ENST00000255189.3	-	5	612	c.584C>T	c.(583-585)cCt>cTt	p.P195L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	195					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGAGAATAAGGATCAATGTG	0.388000													7	30					0	0	8.12818e-05	0	0
CACNA1F	778	broad.mit.edu	37	X	49089751	49089751	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:49089751C>T	ENST00000376265.2	-	1	82	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CACNA1F_ENST00000323022.5_Silent_p.G7G|CACNA1F_ENST00000376251.1_Silent_p.G7G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	7					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCTCACCTTTCCCGCCTTCAG	0.592000													4	16					0	0	3.59834e-05	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941994	45941994	+	Splice_Site	SNP	G	G	T	rs148471285		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:45941994G>T	ENST00000323084.4	-	9	1403	c.1336_splice	c.e9-1	p.G446_splice	TSPEAR_ENST00000397916.1_Splice_Site_p.G378_splice|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	446					cell adhesion	extracellular region	structural molecule activity	p.G446G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGTGGTTGTCGCCTGGAACCA	0.647000													8	54					0.000274275	0.00239391	0.000274275	1	0
LEPREL2	10536	broad.mit.edu	37	12	6943129	6943129	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:6943129C>T	ENST00000251761.8	+	0	1407				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CCCAGGATTCCAGGCAGCTGA	0.617000													18	45					0	0	0.000295444	0	0
PKD2	5311	broad.mit.edu	37	4	88967960	88967960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:88967960C>T	ENST00000237596.2	+	6	1552	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	496						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.R496C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTGGAAATTCGCATTCACAA	0.368000													13	73					0	0	0.000308642	0	0
OR5B12	390191	broad.mit.edu	37	11	58207292	58207292	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58207292G>A	ENST00000302572.2	-	1	354	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCCAGGAGGAAACTTTCTG	0.443000													5	45					0	0	0.000602214	0	0
RYR1	6261	broad.mit.edu	37	19	38983130	38983130	+	Splice_Site	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:38983130G>A	ENST00000355481.4	+	38	6259	c.6127_splice	c.e38-1	p.G2043_splice	RYR1_ENST00000359596.3_Splice_Site_p.G2043_splice|RYR1_ENST00000360985.3_Splice_Site_p.G2043_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2043	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCACTTCCAGGAATTCAGCTA	0.493000													12	35					0	0	0.00010058	0	0
PPHLN1	51535	broad.mit.edu	37	12	42729760	42729760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:42729760C>T	ENST00000432191.2	+	2	128	c.56C>T	c.(55-57)cCt>cTt	p.P19L	PPHLN1_ENST00000317560.9_Missense_Mutation_p.P26L|PPHLN1_ENST00000449194.2_Missense_Mutation_p.P19L|PPHLN1_ENST00000395568.2_Missense_Mutation_p.P19L|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.P19L|PPHLN1_ENST00000337898.6_Missense_Mutation_p.P19L|PPHLN1_ENST00000552761.1_Missense_Mutation_p.P26L|PPHLN1_ENST00000549190.1_Missense_Mutation_p.P37L|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000395580.3_Missense_Mutation_p.P26L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	76					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CGAGCACCTCCTCGAAGTCAT	0.373000													22	93					0	0	0.000295444	0	0
ODC1	4953	broad.mit.edu	37	2	10580951	10580951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:10580951C>T	ENST00000234111.4	-	12	1795	c.1285G>A	c.(1285-1287)Gta>Ata	p.V429I	ODC1_ENST00000405333.1_Missense_Mutation_p.V429I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	429					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TGTTCCTCTACTTCGGGTGGG	0.512000													6	66					0	0	0.000157383	0	0
INA	9118	broad.mit.edu	37	10	105048203	105048203	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105048203T>G	ENST00000369849.4	+	3	1326	c.1277T>G	c.(1276-1278)cTg>cGg	p.L426R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	426	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAAGTTACCTGCTCCCACCT	0.498000													15	74					0	0	0.000566183	0	0
PLK4	10733	broad.mit.edu	37	4	128807865	128807865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:128807865C>T	ENST00000270861.5	+	5	1614	c.1340C>T	c.(1339-1341)cCt>cTt	p.P447L	PLK4_ENST00000515069.1_Missense_Mutation_p.P447L|PLK4_ENST00000514379.1_Missense_Mutation_p.P406L|PLK4_ENST00000513090.1_Missense_Mutation_p.P415L|PLK4_ENST00000507249.1_Intron	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	447					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTGAAAGACCTGATAACAAT	0.358000													5	28					0	0	3.59834e-05	0	0
CHRM4	1132	broad.mit.edu	37	11	46406977	46406977	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:46406977G>A	ENST00000433765.2	-	1	1130	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	377					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CGATGCTGGCGAACTTGCGGG	0.612000													12	80					0	0	0.000978159	0	0
COL4A5	1287	broad.mit.edu	37	X	107814676	107814676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:107814676C>T	ENST00000328300.6	+	7	662	c.418C>T	c.(418-420)Cct>Tct	p.P140S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P140S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	140	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCCGGTTTTCCTGGTTTACA	0.388000									Alport syndrome with Diffuse Leiomyomatosis				26	64					0	0	0.000279167	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059676	152059676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152059676C>T	ENST00000368806.1	-	3	546	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	161							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGGCTTCTCTCCATGGGTC	0.453000													14	55					0	0	0.000308642	0	0
ALX4	60529	broad.mit.edu	37	11	44286723	44286723	+	Missense_Mutation	SNP	G	G	A	rs149897209	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:44286723G>A	ENST00000329255.3	-	4	1020	c.917C>T	c.(916-918)cCg>cTg	p.P306L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	306					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCCAGGACGGGTTCTGAAT	0.682000													4	11					0	0	0.000602214	0	0
SAFB2	9667	broad.mit.edu	37	19	5594006	5594006	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:5594006C>T	ENST00000252542.4	-	15	2367	c.2103G>A	c.(2101-2103)gaG>gaA	p.E701E		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	701	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCGCTCCTGCTCCTTCCTGC	0.741000													5	6					0	0	0.000602214	0	0
AMDHD1	144193	broad.mit.edu	37	12	96348739	96348739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96348739G>A	ENST00000266736.2	+	3	401	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	99					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AAGAGTTCACGAATTTGCAAT	0.358000													9	38					0	0	0.00010058	0	0
MYH2	4620	broad.mit.edu	37	17	10440749	10440749	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10440749G>A	ENST00000245503.5	-	16	2082	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	MYH2_ENST00000397183.2_Silent_p.F566F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.F566F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	566	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGGCTTCTGGAAGTTGGCAG	0.527000													11	58					0	0	0.000673444	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420114	25420114	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:25420114G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GAAGAGAGGTGATGACTTAAA	0.507000													38	142					0	0	0.000374591	0	0
ESYT3	83850	broad.mit.edu	37	3	138189779	138189779	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:138189779C>A	ENST00000389567.4	+	17	1837	c.1651C>A	c.(1651-1653)Ctc>Atc	p.L551I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	551						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCCAGATCCTCCCCTATGC	0.562000													37	187					5.71845e-15	5.08584e-14	0.00111076	1	0
PRDM9	56979	broad.mit.edu	37	5	23526713	23526713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:23526713C>T	ENST00000296682.3	+	11	1698	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	506					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAAGTGAATCCAGGGAACAC	0.438000										HNSCC(3;0.000094)			10	15					0	0	0.000673444	0	0
CD109	135228	broad.mit.edu	37	6	74497077	74497077	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:74497077T>G	ENST00000437994.2	+	21	2889	c.2458T>G	c.(2458-2460)Ttt>Gtt	p.F820V	CD109_ENST00000287097.5_Missense_Mutation_p.F820V|CD109_ENST00000422508.2_Missense_Mutation_p.F743V	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	820						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACTGTTCTTTTTCCCATCAG	0.443000													7	49					0	0	8.12818e-05	0	0
PSMB8	5696	broad.mit.edu	37	6	32810726	32810726	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32810726G>A	ENST00000374881.2	-	2	565	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PSMB8_ENST00000374882.3_Silent_p.S96S|PSMB8_ENST00000395339.3_Silent_p.S96S	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CACTAATGTAGGACCCAGCTG	0.547000													5	37					0	0	0.000602214	0	0
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:126239578C>T	ENST00000394329.3	+	1	2025	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	671	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCCAGTCATCAATGGCTCGC	0.488000													10	50					0	0	0.000978159	0	0
POTEM	641455	broad.mit.edu	37	14	20019837	20019837	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:20019837G>A	ENST00000551509.1	-	1	435	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	128										endometrium(4)|kidney(1)|lung(4)	9						TCGGCTCCATGAAAGCGCTGT	0.602000													13	131					0	0	0.000422831	0	0
MXRA5	25878	broad.mit.edu	37	X	3238618	3238618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:3238618C>T	ENST00000217939.6	-	5	5262	c.5108G>A	c.(5107-5109)gGa>gAa	p.G1703E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1703						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTGTTATTTCCAAACACTTT	0.433000													21	38					0	0	0.000175454	0	0
SCN11A	11280	broad.mit.edu	37	3	38949533	38949533	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38949533G>A	ENST00000450244.1	-	10	1578	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L	SCN11A_ENST00000456224.3_Silent_p.L460L|SCN11A_ENST00000444237.2_Silent_p.L460L|SCN11A_ENST00000302328.3_Silent_p.L460L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	460					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATTACCAAAGAGCTTTCTCT	0.398000													8	56					0	0	0.000157383	0	0
TRAT1	50852	broad.mit.edu	37	3	108568021	108568021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108568021G>A	ENST00000295756.6	+	5	453	c.223G>A	c.(223-225)Gat>Aat	p.D75N	TRAT1_ENST00000426646.1_Missense_Mutation_p.D38N	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	75					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGAACCAATGGATGAAAATTG	0.338000													7	41					0	0	8.12818e-05	0	0
USP6	9098	broad.mit.edu	37	17	5039961	5039961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:5039961G>A	ENST00000574788.1	+	18	2921	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.V231I|USP6_ENST00000250066.6_Missense_Mutation_p.V231I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	231	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTGGGACAGTCCAGGGGCT	0.562000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								8	105					0	0	0.000274275	0	0
OR5D13	390142	broad.mit.edu	37	11	55541205	55541205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55541205G>A	ENST00000361760.1	+	1	292	c.292G>A	c.(292-294)Ggt>Agt	p.G98S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCTTTCTCTGGTTGCATCAT	0.408000													10	52					0	0	0.000151284	0	0
CBLN4	140689	broad.mit.edu	37	20	54579025	54579025	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:54579025T>C	ENST00000064571.2	-	1	1503	c.203A>G	c.(202-204)aAc>aGc	p.N68S		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	68	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GACCTTGGAGTTGGCCGCCCG	0.637000													16	85					0	0	0.00074312	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559127	223559127	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:223559127G>A	ENST00000446656.3	+	4	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	175					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGGTAAGCAAGGAGGGAGGTG	0.418000													13	31					0	0	0.000219431	0	0
OR8J1	219477	broad.mit.edu	37	11	56128424	56128424	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:56128424G>A	ENST00000303039.3	+	1	734	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAGAAGGAAGGAAAAAAGCCT	0.348000													7	29					0	0	8.12818e-05	0	0
CCDC77	84318	broad.mit.edu	37	12	542444	542444	+	Silent	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:542444T>C	ENST00000239830.4	+	9	956	c.777T>C	c.(775-777)gtT>gtC	p.V259V	CCDC77_ENST00000422000.1_Silent_p.V227V|CCDC77_ENST00000540180.1_Silent_p.V227V|CCDC77_ENST00000412006.2_Silent_p.V227V|CCDC77_ENST00000540344.1_3'UTR	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	259						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAATACAAGTTCAGCACCAGA	0.428000													4	64					0	0	0.00024832	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206302	36206302	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36206302C>T	ENST00000392197.2	+	3	1092	c.774C>T	c.(772-774)ggC>ggT	p.G258G	ZBTB32_ENST00000262630.3_Silent_p.G258G			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	258					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTGGGGGGCCAGCCTGCCC	0.677000													11	42					0	0	0.000219431	0	0
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498000													15	81					0	0	0.000566183	0	0
COL5A3	50509	broad.mit.edu	37	19	10071562	10071562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:10071562G>A	ENST00000264828.3	-	66	4941	c.4856C>T	c.(4855-4857)tCc>tTc	p.S1619F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1619	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCCACGTAGGAGAACTGGTG	0.592000													13	52					0	0	0.000151284	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774485	89774485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89774485G>A	ENST00000448984.1	+	8	1455	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	376	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TGGAAAGGAGGGACTCTTTCT	0.448000													6	40					0	0	8.12818e-05	0	0
SLC37A1	54020	broad.mit.edu	37	21	43959705	43959705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:43959705G>A	ENST00000352133.2	+	6	1416	c.434G>A	c.(433-435)gGc>gAc	p.G145D	SLC37A1_ENST00000398341.3_Missense_Mutation_p.G145D			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	145					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCCCTGTTCGGCTTAGGGTAT	0.537000													8	35					0	0	0.000673444	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033537	45033537	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:45033537C>T	ENST00000454753.1	-	0	274							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCCCATGGGTCCCGGCACCTG	0.617000													13	95					0	0	0.00010058	0	0
PTPN22	26191	broad.mit.edu	37	1	114380244	114380244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:114380244G>A	ENST00000359785.5	-	13	1913	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	PTPN22_ENST00000420377.2_Missense_Mutation_p.S593F|PTPN22_ENST00000528414.1_Missense_Mutation_p.S538F|PTPN22_ENST00000525799.1_Missense_Mutation_p.S466F|PTPN22_ENST00000538253.1_Missense_Mutation_p.S349F|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	593					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATAGTGAGGAAATATTGGT	0.328000													7	58					0	0	0.000157383	0	0
CCDC81	60494	broad.mit.edu	37	11	86120405	86120405	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:86120405T>C	ENST00000278487.3	+	9	1500	c.421T>C	c.(421-423)Tat>Cat	p.Y141H	CCDC81_ENST00000528728.1_Missense_Mutation_p.Y141H|CCDC81_ENST00000445632.2_Missense_Mutation_p.Y406H|CCDC81_ENST00000354755.1_Missense_Mutation_p.Y316H			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	406										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACCGGAATTTTATGTAAGTCT	0.383000													8	41					0	0	0.000157383	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457202	110457202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:110457202G>A	ENST00000378402.5	+	38	5208	c.5104G>A	c.(5104-5106)Gtt>Att	p.V1702I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1702	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGTAAAGTTCTATCAGT	0.448000										HNSCC(38;0.096)			29	122					0	0	0.000339439	0	0
ZNF426	79088	broad.mit.edu	37	19	9646888	9646888	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9646888G>A	ENST00000535489.1	-	1	357	c.21C>T	c.(19-21)tcC>tcT	p.S7S	ZNF426_ENST00000253115.2_Silent_p.S7S|ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000589289.1_Silent_p.S7S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GCTTACCATGGGACAAATCAG	0.463000													10	33					0	0	0.000673444	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756509	135756509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:135756509C>T	ENST00000375845.3	-	5	403	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E125K|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E125K|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E142K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E125K	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTTTCTATTTCATTTGGATGA	0.443000													6	38					0	0	3.59834e-05	0	0
PSG4	5672	broad.mit.edu	37	19	43698625	43698625	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:43698625C>T	ENST00000405312.3	-	5	1347	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG4_ENST00000433626.2_Silent_p.G277G|PSG4_ENST00000244295.9_Silent_p.G277G	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	370	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000													23	89					0	0	0.000586117	0	0
PPM1E	22843	broad.mit.edu	37	17	57043131	57043131	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:57043131C>T	ENST00000308249.2	+	3	789	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	229					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGAAAGACTTCCCCCTCCGCA	0.473000													18	86					0	0	0.00074312	0	0
VAT1	10493	broad.mit.edu	37	17	41174290	41174290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:41174290G>A	ENST00000355653.3	-	1	145	c.50C>T	c.(49-51)tCt>tTt	p.S17F	VAT1_ENST00000587173.1_Missense_Mutation_p.S17F	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	17						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGCGGCGAAGAGGCGTCTTC	0.721000													4	12					0	0	0.000602214	0	0
CCL2	6347	broad.mit.edu	37	17	32583280	32583280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:32583280C>T	ENST00000225831.4	+	2	181	c.116C>T	c.(115-117)aCc>aTc	p.T39I	CCL2_ENST00000580907.1_Missense_Mutation_p.T39I	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	39					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TATAACTTCACCAATAGGAAG	0.428000													10	46					0	0	0.000151284	0	0
ACP5	54	broad.mit.edu	37	19	11687164	11687164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11687164G>A	ENST00000592828.1	-	6	1031	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ACP5_ENST00000433365.2_Missense_Mutation_p.S210F|ACP5_ENST00000412435.2_Missense_Mutation_p.S210F|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.S210F	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	210					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTCGGCTATGGACCACACGGG	0.647000													7	14					0	0	0.000157383	0	0
CECR1	51816	broad.mit.edu	37	22	17688089	17688089	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:17688089G>A	ENST00000399839.1	-	3	684	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CECR1_ENST00000449907.2_Silent_p.F96F|CECR1_ENST00000262607.3_Silent_p.F138F|CECR1_ENST00000399837.2_Silent_p.F138F			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	138	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCCTTGGGGTGAAACAGATGT	0.542000													24	34					0	0	0.00106085	0	0
NACA	4666	broad.mit.edu	37	12	57111517	57111517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:57111517G>A	ENST00000454682.1	-	3	4078	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCAGCTGGGGGAGTGGGGGC	0.642000			T	BCL6	NHL								10	42					0	0	0.000673444	0	0
TPM3	7170	broad.mit.edu	37	1	154164395	154164395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:154164395C>T	ENST00000368530.2	-	1	292	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	TPM3_ENST00000271850.7_Missense_Mutation_p.E34K	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	33					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTTTCTTCTGCCTGCTTC	0.468000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								41	108					0	0	0.000781405	0	0
GPR141	353345	broad.mit.edu	37	7	37780129	37780129	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:37780129T>A	ENST00000447769.1	+	4	423	c.134T>A	c.(133-135)aTg>aAg	p.M45K	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.M45K			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTGAAAATGAACACCCGG	0.498000													6	28					0	0	3.59834e-05	0	0
ZFP3	124961	broad.mit.edu	37	17	4995975	4995975	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:4995975C>T	ENST00000318833.3	+	2	1512	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAAACCCTATGAATGCT	0.453000													10	32					0	0	0.000673444	0	0
ZNF239	8187	broad.mit.edu	37	10	44053196	44053196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:44053196C>T	ENST00000306006.6	-	2	984	c.332G>A	c.(331-333)aGt>aAt	p.S111N	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.S111N|ZNF239_ENST00000374446.2_Missense_Mutation_p.S111N|ZNF239_ENST00000535642.1_Missense_Mutation_p.S111N	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTGAACAACTTTCCCCCTT	0.433000													22	66					0	0	0.000229342	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000293	16000293	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:16000293G>A	ENST00000221700.5	-	7	953	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F2_ENST00000011989.7_Silent_p.F137F|CYP4F2_ENST00000592328.1_Silent_p.F286F	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	286					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGCTTGGAGGAAGTCATCAA	0.572000													10	46					0	0	0.000151284	0	0
PDS5A	23244	broad.mit.edu	37	4	39910119	39910119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:39910119G>A	ENST00000303538.8	-	11	1668	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PDS5A_ENST00000503396.1_Missense_Mutation_p.R377C	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	377					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACATCATGACGAATAGCTTCT	0.348000													26	91					0	0	0.000586117	0	0
ZNF628	89887	broad.mit.edu	37	19	55994798	55994798	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55994798C>T	ENST00000598519.1	+	3	2791	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P	ZNF628_ENST00000391718.2_Silent_p.P742P	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	742						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCTGCTGCCCTCCTCCAGTG	0.731000													4	9					0	0	0.000602214	0	0
SLFN11	91607	broad.mit.edu	37	17	33680383	33680383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:33680383C>T	ENST00000394566.1	-	6	2166	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E632K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	632						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGGTTTTCACAAACGTAG	0.428000													9	40					0	0	0.000978159	0	0
OR51S1	119692	broad.mit.edu	37	11	4869588	4869588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4869588G>A	ENST00000322101.2	-	1	926	c.851C>T	c.(850-852)tCc>tTc	p.S284F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACATAGGATAGAAGAGT	0.448000													8	39					0	0	0.000274275	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144949	25144949	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:25144949C>T	ENST00000332271.5	-	12	1790	c.1374G>A	c.(1372-1374)ttG>ttA	p.L458L	PIWIL3_ENST00000533313.1_Silent_p.L349L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.L349L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	458					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATCAAATTTCAAATCCCAGA	0.348000													23	45					0	0	0.00047179	0	0
RANBP2	5903	broad.mit.edu	37	2	109384422	109384422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109384422C>T	ENST00000283195.6	+	20	7553	c.7427C>T	c.(7426-7428)aCa>aTa	p.T2476I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2476					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGAAACCACAAGAGAGAGG	0.423000													39	171					0	0	0.000781405	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956802	73956802	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:73956802G>A	ENST00000358602.4	-	29	6659	c.6543C>T	c.(6541-6543)ccC>ccT	p.P2181P	ANKRD17_ENST00000509867.2_Silent_p.P2068P|ANKRD17_ENST00000330838.6_Silent_p.P1930P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2181					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCATGAGGGGGTGGTCTAA	0.502000													18	94					0	0	0.000958276	0	0
WDR60	55112	broad.mit.edu	37	7	158704297	158704297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:158704297C>T	ENST00000407559.3	+	12	1675	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	506										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTACTTTCTCTCTCTTGGAT	0.323000													13	90					0	0	0.00010058	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210459	35210459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:35210459G>A	ENST00000274938.7	+	14	1595	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R548Q	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	532					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GACTCCTCTCGGAAGGGCAAG	0.622000													12	84					0	0	0.000219431	0	0
TENM2	57451	broad.mit.edu	37	5	167517605	167517605	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:167517605G>A	ENST00000519204.1	+	7	1297	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.G282G|TENM2_ENST00000545108.1_Silent_p.G514G|TENM2_ENST00000403607.2_Silent_p.G347G|TENM2_ENST00000518659.1_Silent_p.G514G					teneurin transmembrane protein 2																		GTCTGGACGGGAAGGAGAAGT	0.547000													5	42					0	0	0.000157383	0	0
KIF14	9928	broad.mit.edu	37	1	200586866	200586866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:200586866G>A	ENST00000367350.4	-	2	1424	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	329	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTTCTGCGGATCTTTCCTG	0.388000													22	48					0	0	0.000229342	0	0
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7842822C>T	ENST00000329913.3	-	2	794	c.747G>A	c.(745-747)agG>agA	p.R249R		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537000													8	47					0	0	0.000442599	0	0
CCDC141	285025	broad.mit.edu	37	2	179720257	179720257	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179720257C>T	ENST00000420890.2	-	19	2994	c.2877G>A	c.(2875-2877)agG>agA	p.R959R	CCDC141_ENST00000295723.5_Silent_p.R384R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	384							protein binding	p.R384R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCCATTTTCCTTTTCAAAG	0.274000													4	35					0	0	0.00024832	0	0
PLG	5340	broad.mit.edu	37	6	161134046	161134046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:161134046G>A	ENST00000308192.9	+	5	499	c.436G>A	c.(436-438)Gga>Aga	p.G146R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	146	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCCTCAGAGGGACTGGAGGA	0.478000													8	38					0	0	0.000978159	0	0
KLHL23	151230	broad.mit.edu	37	2	170591666	170591666	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:170591666T>C	ENST00000392647.2	+	2	386	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.F48L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	48	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						AGGCATAATTTTCCATTGTCA	0.348000													24	141					0	0	0.000720815	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015471	21015471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:21015471G>A	ENST00000381545.3	+	7	826	c.607G>A	c.(607-609)Gga>Aga	p.G203R	LST3_ENST00000540229.1_Missense_Mutation_p.G203R|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G203R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G203R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	203					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGCAAAAGAAGGACATTCTTC	0.353000													11	41					0	0	0.000978159	0	0
MALAT1	378938	broad.mit.edu	37	11	65268186	65268186	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:65268186C>T	ENST00000534336.1	+	0	2954					NR_002819.2																						GTAGAGGATCCTAGACCAGCA	0.532000													12	46					0	0	0.000978159	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43692279	43692279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:43692279C>T	ENST00000564079.1	+	14	1696	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R487W|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	487					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAGTGTGCGCCGGGTGCAAGC	0.483000													4	25					0	0	0.00024832	0	0
BIRC3	330	broad.mit.edu	37	11	102195745	102195745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:102195745G>A	ENST00000263464.3	+	2	3255	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	BIRC3_ENST00000532808.1_Missense_Mutation_p.E169K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	169					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AATGAATAACGAAAATGCCAG	0.413000			T	MALT1	MALT								12	86					0	0	0.00010058	0	0
OR2B3	442184	broad.mit.edu	37	6	29054815	29054815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:29054815G>A	ENST00000377173.2	-	1	275	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GTATAGCAGAGATCTAAGATG	0.423000													10	64					0	0	0.000442599	0	0
SRCIN1	80725	broad.mit.edu	37	17	36700076	36700076	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:36700076C>T	ENST00000264659.7	-	18	3623	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	SRCIN1_ENST00000578925.1_Silent_p.R1167R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	1005					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGCCTGGATCCGCATGTACT	0.706000													4	16					0	0	0.00024832	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827390	43827390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:43827390G>A	ENST00000420765.1	-	31	3966	c.3784C>T	c.(3784-3786)Cct>Tct	p.P1262S	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.P1237S|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.P1235S|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.P1238S|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.P1235S|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.P1258S|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.P1262S|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.P1237S	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1262					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTGATGTCAGGGACCTCCTGA	0.562000													7	39					0	0	8.12818e-05	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173214	146173214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:146173214C>T	ENST00000497985.1	-	6	791	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	PLSCR2_ENST00000336685.2_Missense_Mutation_p.E45K	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	45					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCTTGATTTCATACATGTTA	0.328000													14	80					0	0	0.000219431	0	0
CENPO	79172	broad.mit.edu	37	2	25016811	25016811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:25016811G>A	ENST00000380834.2	+	2	448	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CENPO_ENST00000260662.1_Missense_Mutation_p.R8H|CENPO_ENST00000473706.1_Intron			Q9BU64	CENPO_HUMAN	centromere protein O	8					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AACCCTTTACGTCCAGATGGC	0.557000													18	67					0	0	0.000175454	0	0
RNF17	56163	broad.mit.edu	37	13	25370427	25370427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:25370427G>A	ENST00000255324.5	+	11	1445	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	RNF17_ENST00000381921.1_Missense_Mutation_p.E465K|RNF17_ENST00000255325.5_Missense_Mutation_p.E466K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	465					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGACATTTTGGAACTAGGTAA	0.303000													7	50					0	0	8.12818e-05	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661990	8661990	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8661990G>A	ENST00000270328.4	-	7	1187	c.921C>T	c.(919-921)gcC>gcT	p.A307A	ADAMTS10_ENST00000597188.1_Silent_p.A307A			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGACTTCCCGGCATGGTGGG	0.582000													7	48					0	0	0.000274275	0	0
GDF9	2661	broad.mit.edu	37	5	132200017	132200017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:132200017G>A	ENST00000378673.2	-	2	1075	c.209C>T	c.(208-210)tCt>tTt	p.S70F	GDF9_ENST00000296875.2_Missense_Mutation_p.S70F|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	70					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGCCCAACAGATAGAACTTT	0.512000													13	58					0	0	0.000151284	0	0
MMP1	4312	broad.mit.edu	37	11	102662100	102662100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:102662100C>T	ENST00000315274.6	-	8	1227	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	387	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAGGTTTTTCCAGTGTTTTC	0.418000													11	60					0	0	0.000151284	0	0
FBN3	84467	broad.mit.edu	37	19	8154824	8154824	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8154824G>A	ENST00000600128.1	-	50	6618	c.6204C>T	c.(6202-6204)tgC>tgT	p.C2068C	FBN3_ENST00000601739.1_Silent_p.C2068C|FBN3_ENST00000270509.2_Silent_p.C2068C			Q75N90	FBN3_HUMAN	fibrillin 3	2068	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAAAGGGGCAGAGCTCCT	0.637000													4	14					0	0	0.000602214	0	0
GRIA2	2891	broad.mit.edu	37	4	158257893	158257893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:158257893C>T	ENST00000296526.7	+	11	2163	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	GRIA2_ENST00000264426.9_Missense_Mutation_p.S613L|GRIA2_ENST00000393815.2_Missense_Mutation_p.S566L|GRIA2_ENST00000449365.1_Missense_Mutation_p.S566L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S566L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	613					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCGATATTTCGCCAAGGTTG	0.413000													8	56					0	0	0.000442599	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208003	140208003	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140208003C>T	ENST00000529310.1	+	1	441	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.I109I|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.I109I(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.557000													26	158					0	0	0.000692331	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516594	140516594	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140516594C>G	ENST00000231134.5	+	1	1795	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCGTTCGAGTTCCGCG	0.687000													14	55					0	0	0.000219431	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363231	22363231	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:22363231T>A	ENST00000263160.3	+	2	681	c.244T>A	c.(244-246)Tgc>Agc	p.C82S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	82					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTGGGCTTCTGCATCTCCTT	0.642000													7	22					0	0	0.000157383	0	0
ATF6B	1388	broad.mit.edu	37	6	32088853	32088853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32088853G>A	ENST00000375201.4	-	7	649	c.604C>T	c.(604-606)Cct>Tct	p.P202S	ATF6B_ENST00000375203.3_Missense_Mutation_p.P205S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	205					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CATCCTGAAGGGGACAGGGAC	0.547000													29	156					0	0	0.000409698	0	0
PTPRF	5792	broad.mit.edu	37	1	44056841	44056841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:44056841C>T	ENST00000359947.4	+	9	1488	c.1148C>T	c.(1147-1149)tCg>tTg	p.S383L	PTPRF_ENST00000372413.3_Missense_Mutation_p.S383L|PTPRF_ENST00000438120.1_Missense_Mutation_p.S383L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S383L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	383	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCCTTTCTCGGAATATGCC	0.682000													8	44					0	0	0.000442599	0	0
DNAH3	55567	broad.mit.edu	37	16	21042505	21042505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:21042505C>T	ENST00000261383.3	-	37	5300	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.W1767*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1767	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACCATCCATCCACTCGTGGC	0.502000													7	61					0	0	0.000274275	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699992	47699992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:47699992G>A	ENST00000397708.1	-	5	1836	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S	MCM3AP_ENST00000291688.1_Missense_Mutation_p.P528S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	528					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCTGTGCTCGGGCTGACTTCA	0.537000													20	87					0	0	0.000175454	0	0
ABCE1	6059	broad.mit.edu	37	4	146042490	146042490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:146042490G>A	ENST00000296577.4	+	13	1725	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	404	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGCAGGAGAAGTACCAGTTCT	0.284000													18	92					0	0	0.000295444	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338085	42338085	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:42338085C>T	ENST00000262418.6	-	5	422	c.267G>A	c.(265-267)ggG>ggA	p.G89G	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	89					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCCATTCTCCCCCAGGTTCT	0.627000													6	21					0	0	3.59834e-05	0	0
FBN1	2200	broad.mit.edu	37	15	48704768	48704768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:48704768C>T	ENST00000316623.5	-	65	8679	c.8224G>A	c.(8224-8226)Gag>Aag	p.E2742K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2742					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACCCACCTCGATATTGGAG	0.498000													11	41					0	0	0.000151284	0	0
KIF19	124602	broad.mit.edu	37	17	72349661	72349661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:72349661G>A	ENST00000389916.4	+	17	2387	c.2249G>A	c.(2248-2250)tGg>tAg	p.W750*		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	750					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGGGCAGCTGGATCAACTCT	0.617000													6	21					0	0	8.12818e-05	0	0
KCTD16	57528	broad.mit.edu	37	5	143853618	143853618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:143853618C>T	ENST00000507359.2	+	3	2319	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	KCTD16_ENST00000512467.1_Missense_Mutation_p.R410W	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AATTCCAGATCGGTTTCCTGA	0.383000													6	52					0	0	8.12818e-05	0	0
HAL	3034	broad.mit.edu	37	12	96389549	96389549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96389549G>A	ENST00000261208.3	-	2	508	c.140C>T	c.(139-141)tCc>tTc	p.S47F	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.S47F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	47					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTCATCCACGGAGGTGAAGCC	0.647000													4	23					0	0	0.00024832	0	0
ITIH3	3699	broad.mit.edu	37	3	52836407	52836407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:52836407G>A	ENST00000449956.2	+	12	1447	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ITIH3_ENST00000416872.2_Missense_Mutation_p.E481K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	481					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAGTACCCCGAGAACGCTAT	0.602000													4	22					0	0	0.00024832	0	0
MFI2	4241	broad.mit.edu	37	3	196737642	196737642	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:196737642G>A	ENST00000296350.5	-	10	1370	c.1257C>T	c.(1255-1257)acC>acT	p.T419T		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	419	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCCACTCAGGGTCACAGCGT	0.667000													6	21					0	0	8.12818e-05	0	0
TEX13A	56157	broad.mit.edu	37	X	104464113	104464113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:104464113C>T	ENST00000413579.1	-	5	874	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.R255R|TEX13A_ENST00000372578.3_Silent_p.R255R|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	255						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGTACTTTTCCTGATCAGCA	0.577000													5	16					0	0	0.000602214	0	0
OR14I1	401994	broad.mit.edu	37	1	248845033	248845033	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248845033G>A	ENST00000342623.3	-	1	596	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACTCTACAAAGAAAACCTCAC	0.483000													6	29					0	0	8.12818e-05	0	0
HECW2	57520	broad.mit.edu	37	2	197297889	197297889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:197297889C>T	ENST00000260983.2	-	2	441	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	87					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCACTGGGGTCCACCTCCTCT	0.463000													5	36					0	0	8.12818e-05	0	0
HLA-G	3135	broad.mit.edu	37	6	29797309	29797309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:29797309G>A	ENST00000428701.1	+	5	912	c.734G>A	c.(733-735)gGg>gAg	p.G245E	HLA-G_ENST00000376818.3_Missense_Mutation_p.G153E|HLA-G_ENST00000360323.6_Missense_Mutation_p.G245E|HLA-G_ENST00000376828.2_Missense_Mutation_p.G250E|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	245	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGCGGGATGGGGAGGACCAG	0.632000													10	65					0	0	0.00010058	0	0
CTC1	80169	broad.mit.edu	37	17	8141408	8141408	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:8141408G>A	ENST00000315684.8	-	4	595	c.588C>T	c.(586-588)ggC>ggT	p.G196G	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	196					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCGTGACGGGGCCAGGACTGA	0.592000													6	36					0	0	3.59834e-05	0	0
GM2A	2760	broad.mit.edu	37	5	150646988	150646988	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:150646988C>T	ENST00000357164.3	+	4	883	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	186						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557000													5	26					0	0	3.59834e-05	0	0
NRP1	8829	broad.mit.edu	37	10	33475384	33475384	+	Missense_Mutation	SNP	C	C	T	rs139081795		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:33475384C>T	ENST00000265371.4	-	15	2620	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	NRP1_ENST00000395995.1_Missense_Mutation_p.E699K|NRP1_ENST00000374867.2_Missense_Mutation_p.E699K			O14786	NRP1_HUMAN	neuropilin 1	699	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCTGATTTTCGTCAGCTTGG	0.493000													7	47					0	0	0.000157383	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169028	90169028	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:90169028A>C	ENST00000333209.3	-	2	2752	c.2234T>G	c.(2233-2235)cTc>cGc	p.L745R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	745										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTTCCTCTGAGCTTCTTATT	0.463000													18	68					0	0	0.000958276	0	0
CD163	9332	broad.mit.edu	37	12	7651781	7651781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7651781C>T	ENST00000359156.4	-	4	663	c.461G>A	c.(460-462)gGa>gAa	p.G154E	CD163_ENST00000432237.2_Missense_Mutation_p.G154E|CD163_ENST00000541972.1_Missense_Mutation_p.G142E|CD163_ENST00000396620.3_Missense_Mutation_p.G154E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	154					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAAATTGGATCCATCTGGAGC	0.413000													8	81					0	0	0.000274275	0	0
TAF1L	138474	broad.mit.edu	37	9	32634889	32634889	+	Missense_Mutation	SNP	G	G	A	rs142455268		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:32634889G>A	ENST00000242310.4	-	1	778	c.689C>T	c.(688-690)cCa>cTa	p.P230L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	230					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.P230L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCAGCCAATGGAAGGGTCAG	0.463000													16	87					0	0	0.000566183	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733670	56733670	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56733670C>T	ENST00000587340.1	-	7	1460	c.765G>A	c.(763-765)ggG>ggA	p.G255G	ZSCAN5A_ENST00000587492.1_Silent_p.G109G|ZSCAN5A_ENST00000391713.1_Silent_p.G255G|ZSCAN5A_ENST00000254165.3_Silent_p.G138G|ZSCAN5A_ENST00000592355.1_Silent_p.G254G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	255					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGGGTCCTTCCCCTCCTTTG	0.488000													15	51					0	0	0.000308642	0	0
C16orf82	162083	broad.mit.edu	37	16	27078340	27078340	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:27078340C>T	ENST00000505035.1	+	0	313				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			TTCAGCTGCCCCCCATTTTTC	0.567000													7	20					0	0	0.000274275	0	0
FAT4	79633	broad.mit.edu	37	4	126398441	126398441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:126398441G>A	ENST00000394329.3	+	13	12438	c.12425G>A	c.(12424-12426)aGg>aAg	p.R4142K	FAT4_ENST00000335110.5_Missense_Mutation_p.R2405K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4142	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAATGGAAGGCCTCTGGAA	0.413000													17	91					0	0	0.000566183	0	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247695301C>T	ENST00000366487.3	-	2	874	c.513G>A	c.(511-513)ggG>ggA	p.G171G	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000													6	15					0	0	8.12818e-05	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996992	62996992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:62996992G>A	ENST00000306494.6	-	1	132	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	45					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CGATGATCAAGTATGAATGCT	0.483000													6	47					0	0	8.12818e-05	0	0
SI	6476	broad.mit.edu	37	3	164772986	164772986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:164772986C>T	ENST00000264382.3	-	13	1570	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	503	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTTACAATCCAAAGTCCATC	0.323000										HNSCC(35;0.089)			9	40					0	0	0.000274275	0	0
PDPR	55066	broad.mit.edu	37	16	70190389	70190389	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:70190389C>T	ENST00000288050.4	+	19	3204	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.F649F|PDPR_ENST00000568530.1_Silent_p.F749F|PDPR_ENST00000542659.1_Silent_p.F94F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.F107F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	749					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCATGGATTTCATTGGTCGCG	0.552000													12	82					0	0	0.000151284	0	0
ENPEP	2028	broad.mit.edu	37	4	111398146	111398146	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:111398146C>T	ENST00000265162.5	+	1	918	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	192					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCATGGAGTTCGCCGGCTGGC	0.507000													9	43					0	0	0.000978159	0	0
FLII	2314	broad.mit.edu	37	17	18150580	18150580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:18150580G>A	ENST00000327031.4	-	21	2804	c.2579C>T	c.(2578-2580)tCc>tTc	p.S860F	FLII_ENST00000579294.1_Missense_Mutation_p.S849F|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.S805F|FLII_ENST00000379450.4_Missense_Mutation_p.S774F	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	860					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CACCTTCCCGGAGAGACCCGG	0.617000													9	49					0	0	0.000274275	0	0
FRAS1	80144	broad.mit.edu	37	4	79373450	79373450	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:79373450G>A	ENST00000264895.6	+	47	7145	c.6705G>A	c.(6703-6705)ttG>ttA	p.L2235L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2234					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						CTACAGAATTGATCTACAGAA	0.473000													5	17					0	0	0.000602214	0	0
PHKA2	5256	broad.mit.edu	37	X	18942596	18942596	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:18942596G>A	ENST00000379942.4	-	16	2282	c.1617C>T	c.(1615-1617)atC>atT	p.I539I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	539					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCATCTCCACGATCATCTCAT	0.552000													10	24					0	0	0.000442599	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033081	82033081	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:82033081G>A	ENST00000328945.5	-	3	944	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	273					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGTAGCCCAGGCCCTCAACC	0.522000													5	37					0	0	3.59834e-05	0	0
WDR62	284403	broad.mit.edu	37	19	36590354	36590354	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36590354C>T	ENST00000401500.2	+	22	2609	c.2574C>T	c.(2572-2574)taC>taT	p.Y858Y	WDR62_ENST00000270301.7_Silent_p.Y858Y	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	858					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCAGCTACCAGCCCCACG	0.622000													7	21					0	0	0.000157383	0	0
SEC24D	9871	broad.mit.edu	37	4	119745841	119745841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:119745841G>A	ENST00000379735.5	-	3	453	c.182C>T	c.(181-183)cCc>cTc	p.P61L	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P61L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	61	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AGGAGGTGGGGGACCCGGAGG	0.537000													9	86					0	0	0.000274275	0	0
DNAH8	1769	broad.mit.edu	37	6	38758067	38758067	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:38758067G>A	ENST00000359357.3	+	18	2270	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	DNAH8_ENST00000449981.2_Silent_p.V889V|DNAH8_ENST00000441566.1_Silent_p.V672V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTTCTAGGTGGAATCTGTGT	0.353000													11	88					0	0	0.000978159	0	0
ITGA9	3680	broad.mit.edu	37	3	37778443	37778443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:37778443G>A	ENST00000264741.5	+	20	2459	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	735					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGGAAGAGGAAGTTCTCAG	0.433000													6	50					0	0	0.000157383	0	0
MALT1	10892	broad.mit.edu	37	18	56402458	56402458	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:56402458A>T	ENST00000348428.3	+	13	1758	c.1500A>T	c.(1498-1500)gaA>gaT	p.E500D	MALT1_ENST00000345724.3_Missense_Mutation_p.E489D|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	500	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAGCTTTTGAAATCCAGCATT	0.343000			T	BIRC3	MALT								14	49					0	0	0.000219431	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441574	79441574	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:79441574G>A	ENST00000376718.3	-	5	706	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.L195L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	195					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTCTTCCAGGATAGAAAGA	0.443000													9	47					0	0	0.000274275	0	0
OR6C65	403282	broad.mit.edu	37	12	55795116	55795116	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:55795116G>A	ENST00000379665.2	+	1	903	c.804G>A	c.(802-804)ttG>ttA	p.L268L		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTATGGCTTTGAGCAAAGGTG	0.388000													10	52					0	0	0.000978159	0	0
KPNA6	23633	broad.mit.edu	37	1	32623923	32623923	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32623923C>T	ENST00000373625.3	+	5	480	c.387C>T	c.(385-387)ttC>ttT	p.F129F	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Silent_p.F126F|KPNA6_ENST00000545542.1_Silent_p.F134F	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	129					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGATCGGTTCGTGGAGTTTC	0.423000													44	126					0	0	0.000781405	0	0
WDTC1	23038	broad.mit.edu	37	1	27630175	27630175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:27630175C>T	ENST00000319394.3	+	14	2067	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	WDTC1_ENST00000361771.3_Missense_Mutation_p.S510F	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	511							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGCAAGGACTCCATCTCAGAG	0.592000													11	56					0	0	0.000673444	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475257	140475257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140475257C>T	ENST00000194155.4	+	1	1031	c.883C>T	c.(883-885)Cga>Tga	p.R295*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAACGTTTCGATTAAGTGC	0.428000													20	66					0	0	0.000132079	0	0
COL5A1	1289	broad.mit.edu	37	9	137702115	137702115	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:137702115G>A	ENST00000371817.3	+	44	3903	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1163	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGATCGGGGAGCCGGGGCAGA	0.592000													10	44					0	0	0.000673444	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306388	27306388	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:27306388T>G	ENST00000380320.4	+	4	2448	c.1949T>G	c.(1948-1950)gTt>gGt	p.V650G		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	650					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCTGAGGTTATTCTCAGC	0.632000													9	40					0	0	0.000274275	0	0
LRP1B	53353	broad.mit.edu	37	2	141607863	141607863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:141607863C>T	ENST00000389484.3	-	29	5718	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1583					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCTGATTTCAGAACGTCTT	0.333000										TSP Lung(27;0.18)			9	22					0	0	0.000442599	0	0
CHORDC1	26973	broad.mit.edu	37	11	89936519	89936519	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89936519T>C	ENST00000529726.1	-	2	4095	c.182A>G	c.(181-183)aAc>aGc	p.N61S	CHORDC1_ENST00000320585.6_Missense_Mutation_p.N249S|CHORDC1_ENST00000457199.2_Missense_Mutation_p.N230S|CHORDC1_ENST00000529987.1_Missense_Mutation_p.N61S			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	249	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TGGAAGTGAGTTTTTAGCATA	0.353000													16	52					0	0	0.00074312	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906696	84906696	+	Silent	SNP	G	G	A	rs143175101		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:84906696G>A	ENST00000262424.5	+	10	1304	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	CRISPLD2_ENST00000567845.1_Silent_p.V359V|CRISPLD2_ENST00000564567.1_Silent_p.V360V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	360	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCTTCTTCGTGAAGTCTGAGA	0.537000													7	54					0	0	0.000157383	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	77					0	0	0.000437636	0	0
CAPN12	147968	broad.mit.edu	37	19	39230712	39230712	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:39230712G>A	ENST00000328867.4	-	5	1016	c.708C>T	c.(706-708)tcC>tcT	p.S236S	CAPN12_ENST00000601953.1_Silent_p.S87S	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	236	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCACGAGGGACTCCTTGG	0.637000													5	23					0	0	3.59834e-05	0	0
IQCE	23288	broad.mit.edu	37	7	2634551	2634551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:2634551C>T	ENST00000402050.2	+	16	1565	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*	IQCE_ENST00000404984.1_Nonsense_Mutation_p.Q410*|IQCE_ENST00000325979.7_Nonsense_Mutation_p.Q396*|IQCE_ENST00000438376.2_Nonsense_Mutation_p.Q445*	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	461										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CAGCAAGCTCCAAGAATTGCA	0.498000													20	114					0	0	0.000375601	0	0
MRAP2	112609	broad.mit.edu	37	6	84772701	84772701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:84772701C>T	ENST00000257776.4	+	3	352	c.217C>T	c.(217-219)Cca>Tca	p.P73S		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	73					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAGGAGCCCCACACCAAGA	0.468000													5	31					0	0	0.000602214	0	0
EXOC6	54536	broad.mit.edu	37	10	94816709	94816709	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:94816709G>T	ENST00000371552.4	+	21	2212	c.2183G>T	c.(2182-2184)tGg>tTg	p.W728L	EXOC6_ENST00000443748.2_Missense_Mutation_p.W630L|EXOC6_ENST00000371547.4_Missense_Mutation_p.W749L|EXOC6_ENST00000260762.6_Missense_Mutation_p.W733L	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	733					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GTTTGGGATTGGTCTACTTAC	0.388000													10	345					0.000978159	0.00844315	0.000978159	1	0
CGN	57530	broad.mit.edu	37	1	151506472	151506472	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:151506472C>T	ENST00000271636.7	+	15	2897	c.2764C>T	c.(2764-2766)Ctg>Ttg	p.L922L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	916						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGCAGGCCCTGCAGGCATC	0.632000													7	32					0	0	0.000157383	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049059	36049059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36049059G>A	ENST00000282507.3	-	4	876	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.R225*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGAGGTCGAGCAAAATCA	0.423000													5	39					0	0	0.000602214	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:76572111C>T	ENST00000307431.8	+	20	3476	c.3091C>T	c.(3091-3093)Cat>Tat	p.H1031Y	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368000													14	43					0	0	0.000151284	0	0
TIE1	7075	broad.mit.edu	37	1	43779026	43779026	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:43779026C>T	ENST00000372476.3	+	13	2227	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.F361F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	716	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTACCTCTTCCGCATGCGGG	0.652000													10	51					0	0	0.000673444	0	0
MYOCD	93649	broad.mit.edu	37	17	12655756	12655756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:12655756G>A	ENST00000425538.1	+	10	1351	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.R384Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R288Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R384Q(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACAGCTTCGAATTCGGGGC	0.453000													10	41					0	0	0.000978159	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956682	88956682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:88956682G>A	ENST00000333190.4	+	3	883	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	92						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAGCAACGGGAATTTGCTCG	0.338000										HNSCC(36;0.09)			9	30					0	0	0.00010058	0	0
ADAM17	6868	broad.mit.edu	37	2	9630376	9630376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:9630376C>T	ENST00000310823.3	-	19	2587	c.2405G>A	c.(2404-2406)aGa>aAa	p.R802K	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	802					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTTCACTTCTGGTGACCGG	0.478000													9	35					0	0	0.000978159	0	0
TMEM260	54916	broad.mit.edu	37	14	57114104	57114104	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:57114104C>T	ENST00000261556.6	+	16	2135	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Silent_p.F205F|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3			transmembrane protein 260																		TCAGACATTTCCGTCTGTACT	0.463000													8	49					0	0	0.000157383	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925192	4925192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrY:4925192G>A	ENST00000333703.4	+	4	808	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E110K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E110K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTCGAATTGAAGAGGATAC	0.448000													17	33					0	0	0.000958276	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831899	34831899	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:34831899G>A	ENST00000192788.5	+	15	3507	c.3336G>A	c.(3334-3336)ttG>ttA	p.L1112L	UHRF1BP1_ENST00000452449.2_Silent_p.L1112L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1112										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GTGTCTCATTGGATAGCAGTG	0.527000													19	109					0	0	0.000132079	0	0
LY75	4065	broad.mit.edu	37	2	160676288	160676288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:160676288C>T	ENST00000263636.4	-	29	4129	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	LY75_ENST00000554112.1_Missense_Mutation_p.E1368K|LY75_ENST00000553424.1_Missense_Mutation_p.E1368K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1368K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1368K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TAAACTGCTTCTTCAATAACT	0.343000													6	78					0	0	0.000673444	0	0
SPEG	10290	broad.mit.edu	37	2	220315923	220315923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:220315923C>T	ENST00000312358.7	+	5	2311	c.2179C>T	c.(2179-2181)Ccc>Tcc	p.P727S	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.P623S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	727	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTTGAGATCCCCCTGCAGAA	0.602000													13	49					0	0	0.000151284	0	0
KMT2D	8085	broad.mit.edu	37	12	49445207	49445207	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:49445207G>A	ENST00000301067.7	-	10	2258	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGCCGGGGGGACAGGTGCG	0.692000													4	33					0	0	0.000602214	0	0
SLC4A8	9498	broad.mit.edu	37	12	51856188	51856188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:51856188G>A	ENST00000453097.2	+	10	1413	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	SLC4A8_ENST00000394856.1_Missense_Mutation_p.G346E|SLC4A8_ENST00000358657.3_Missense_Mutation_p.G426E|SLC4A8_ENST00000535225.2_Missense_Mutation_p.G346E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G346E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	399					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTCCCTCCAGGAGAGTGGGAT	0.488000													5	25					0	0	0.000602214	0	0
KCNH6	81033	broad.mit.edu	37	17	61607722	61607722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:61607722G>A	ENST00000583023.1	+	4	505	c.494G>A	c.(493-495)gGa>gAa	p.G165E	KCNH6_ENST00000314672.5_Missense_Mutation_p.G165E|KCNH6_ENST00000581784.1_Missense_Mutation_p.G165E|KCNH6_ENST00000580652.1_Missense_Mutation_p.G165E|KCNH6_ENST00000456941.2_Missense_Mutation_p.G165E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	165			G -> R (in dbSNP:rs35399062).		regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGCCAGGCGGACCAGGGCCA	0.637000													12	46					0	0	0.00010058	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36257607C>T	ENST00000296604.3	-	9	1206	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	RANBP3L_ENST00000515759.1_Missense_Mutation_p.E241K|RANBP3L_ENST00000502994.1_Missense_Mutation_p.E266K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000													7	67					0	0	0.000157383	0	0
CDH23	64072	broad.mit.edu	37	10	73562739	73562739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:73562739C>T	ENST00000224721.6	+	53	7587	c.7582C>T	c.(7582-7584)Ccg>Tcg	p.P2528S	CDH23_ENST00000398788.3_Missense_Mutation_p.P283S|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2523	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAGAATGAGCCGGCGGGCAC	0.577000													5	29					0	0	0.000602214	0	0
CDH7	1005	broad.mit.edu	37	18	63530167	63530167	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:63530167C>T	ENST00000536984.2	+	11	2572	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	CDH7_ENST00000397968.2_Intron|CDH7_ENST00000323011.3_Intron			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	0					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGTACTGTTTCCAGGGCTTGC	0.478000													5	31					0	0	3.59834e-05	0	0
WDR36	134430	broad.mit.edu	37	5	110456205	110456205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:110456205C>T	ENST00000506538.2	+	18	2657	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	WDR36_ENST00000513710.2_Missense_Mutation_p.S695F	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	695					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCAATATTTCCCTGTATTCA	0.328000													11	57					0	0	0.000151284	0	0
LAMB4	22798	broad.mit.edu	37	7	107703302	107703302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107703302C>T	ENST00000388781.3	-	23	3282	c.3199G>A	c.(3199-3201)Gga>Aga	p.G1067R	LAMB4_ENST00000205386.4_Missense_Mutation_p.G1067R|LAMB4_ENST00000388780.3_Missense_Mutation_p.G1067R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1067	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCCAGTATCCATCAGCACAA	0.557000													11	26					0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	113933949	113933949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:113933949C>T	ENST00000297405.5	-	10	1784	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E410K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E474K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E514K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	514	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATAATCTTCATCACAAGAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	28					0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55534013	55534013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:55534013G>A	ENST00000220676.1	+	2	635	c.487G>A	c.(487-489)Gac>Aac	p.D163N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	163	Doublecortin 2.				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)			CAGGAATGGCGACCCGAAGAC	0.662000													7	60					0	0	0.000157383	0	0
HMCN1	83872	broad.mit.edu	37	1	186045683	186045683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:186045683C>T	ENST00000271588.4	+	54	8643	c.8414C>T	c.(8413-8415)cCc>cTc	p.P2805L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2805L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2805	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGCTGCTCCCCCTCCTACA	0.433000													9	31					0	0	0.000673444	0	0
DUSP27	92235	broad.mit.edu	37	1	167097058	167097058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:167097058G>A	ENST00000361200.2	+	6	2856	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.R897Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R897Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	897	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAGCTTCCGATATTCTTCC	0.507000													16	27					0	0	0.000308642	0	0
LANCL3	347404	broad.mit.edu	37	X	37431170	37431170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:37431170G>A	ENST00000378621.3	+	1	349	c.47G>A	c.(46-48)gGc>gAc	p.G16D	LANCL3_ENST00000378619.3_Missense_Mutation_p.G16D|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	16							catalytic activity			lung(4)|pancreas(1)	5						GACTACCAGGGCAGCCTGCTG	0.682000													3	2					0	0	0.00024832	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:41452109C>T	ENST00000400454.1	-	25	4867	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1464	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTATGATTTCACTTATGCGC	0.458000													13	75					0	0	0.00010058	0	0
PASD1	139135	broad.mit.edu	37	X	150842617	150842617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:150842617G>A	ENST00000370357.4	+	15	2379	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	712						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTCTTGCGATGAGCAGGG	0.567000													10	32					0	0	0.000673444	0	0
C5	727	broad.mit.edu	37	9	123753538	123753538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:123753538C>T	ENST00000223642.1	-	23	2901	c.2872G>A	c.(2872-2874)Gag>Aag	p.E958K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	958					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TATGGGAACTCCTTTCGTCTG	0.338000													16	91					0	0	0.000132079	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673884	20673884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:20673884C>T	ENST00000525748.1	+	15	2393	c.2120C>T	c.(2119-2121)tCt>tTt	p.S707F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	707					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCTATGGCTCTTACCGCTAT	0.473000													14	69					0	0	0.000308642	0	0
FZD6	8323	broad.mit.edu	37	8	104330892	104330892	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:104330892C>T	ENST00000358755.4	+	3	569	c.252C>T	c.(250-252)acC>acT	p.T84T	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Silent_p.T52T|FZD6_ENST00000522566.1_Silent_p.T84T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	84	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTGTACCAACCTGCATAGAAC	0.363000													9	43					0	0	0.000978159	0	0
EPHA3	2042	broad.mit.edu	37	3	89259296	89259296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:89259296C>T	ENST00000336596.2	+	3	665	c.440C>T	c.(439-441)gCa>gTa	p.A147V	EPHA3_ENST00000494014.1_Missense_Mutation_p.A147V|EPHA3_ENST00000452448.2_Missense_Mutation_p.A147V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	147						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACACCATTGCAGCTGATGAA	0.418000										TSP Lung(6;0.00050)			12	72					0	0	0.000151284	0	0
UMODL1	89766	broad.mit.edu	37	21	43504231	43504231	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:43504231G>A	ENST00000400427.1	+	3	537	c.141G>A	c.(139-141)ggG>ggA	p.G47G	UMODL1_ENST00000408989.2_Silent_p.G119G|UMODL1_ENST00000400424.1_Silent_p.G47G|UMODL1_ENST00000408910.2_Silent_p.G119G	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	119	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAGACCTGGGGCCTGCCCCG	0.572000													10	68					0	0	0.00010058	0	0
C1orf173	127254	broad.mit.edu	37	1	75037329	75037329	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75037329C>T	ENST00000326665.5	-	14	4283	c.4065G>A	c.(4063-4065)gaG>gaA	p.E1355E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1355	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCCCTCTCCTCTGCGGCTG	0.522000													15	72					0	0	0.000958276	0	0
PI16	221476	broad.mit.edu	37	6	36931667	36931667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36931667C>T	ENST00000373674.3	+	6	1667	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	PI16_ENST00000491324.1_3'UTR	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	447						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGTGGGGCCCTCTCCTGGG	0.617000													4	33					0	0	0.00024832	0	0
SORL1	6653	broad.mit.edu	37	11	121348849	121348849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:121348849G>A	ENST00000260197.7	+	3	554	c.425G>A	c.(424-426)gGa>gAa	p.G142E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	142					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACGACTATGGAAAATCATTC	0.388000													8	62					0	0	0.000673444	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406777	144406777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:144406777G>A	ENST00000523676.1	-	7	805	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	TOP1MT_ENST00000521193.1_Missense_Mutation_p.P134S|TOP1MT_ENST00000329245.4_Missense_Mutation_p.P232S|TOP1MT_ENST00000519148.1_Missense_Mutation_p.P134S			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	232					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCCCCGCCGGCGGCTCGGGG	0.562000													16	92					0	0	0.000229342	0	0
ENGASE	64772	broad.mit.edu	37	17	77081374	77081374	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:77081374C>T	ENST00000579016.1	+	12	1650	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	550						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCAAGCTGGCCAGATGGGTGG	0.592000													6	31					0	0	0.000157383	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413579	61413579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61413579G>A	ENST00000395348.3	-	5	1841	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S402F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	402					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGGATCCCAGAAAGCAACGC	0.408000													10	50					0	0	0.000978159	0	0
MAML3	55534	broad.mit.edu	37	4	140811010	140811010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:140811010G>A	ENST00000509479.2	-	2	2436	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	MAML3_ENST00000398940.1_Missense_Mutation_p.P55L|MAML3_ENST00000327122.5_Missense_Mutation_p.P371L	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	523	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGCTCCATATGGACTAGAGGG	0.498000													20	138					0	0	0.000958276	0	0
IREB2	3658	broad.mit.edu	37	15	78786279	78786279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:78786279G>A	ENST00000258886.8	+	19	2502	c.2353G>A	c.(2353-2355)Gga>Aga	p.G785R		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	785							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAACTCTTACGGAGCTCGAAG	0.358000													9	70					0	0	0.000978159	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908584	164908584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:164908584C>T	ENST00000475390.1	-	2	478	c.35G>A	c.(34-36)gGa>gAa	p.G12E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G12E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	12						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAACATCCTTCCTCTGTGAAG	0.398000										HNSCC(40;0.11)			8	33					0	0	0.000157383	0	0
SVEP1	79987	broad.mit.edu	37	9	113173468	113173468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113173468C>T	ENST00000401783.2	-	37	6859	c.6523G>A	c.(6523-6525)Ggg>Agg	p.G2175R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G2152R|SVEP1_ENST00000297826.5_Missense_Mutation_p.G101R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2175	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTAGAACCCCTTGTTGCAG	0.532000													10	53					0	0	0.000673444	0	0
MYH8	4626	broad.mit.edu	37	17	10304459	10304459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10304459C>T	ENST00000403437.2	-	25	3252	c.3158G>A	c.(3157-3159)aGa>aAa	p.R1053K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1053					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTTTGCTCTTTCTAGATC	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	54					0	0	0.000219431	0	0
BRSK2	9024	broad.mit.edu	37	11	1459553	1459553	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:1459553G>A	ENST00000308219.9	+	3	590	c.204G>A	c.(202-204)gcG>gcA	p.A68A	BRSK2_ENST00000308230.5_Silent_p.A68A|BRSK2_ENST00000528841.1_Silent_p.A68A|BRSK2_ENST00000526678.1_Silent_p.A68A|BRSK2_ENST00000528710.1_Silent_p.A8A|BRSK2_ENST00000382179.1_Silent_p.A114A|BRSK2_ENST00000531197.1_Silent_p.A68A	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	68	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGAGATCGCGATCCTGAAGC	0.557000													11	51					0	0	0.000219431	0	0
TEX26	122046	broad.mit.edu	37	13	31513852	31513852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:31513852C>T	ENST00000380473.3	+	2	96	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	28																	AACTGGGATTCCTATGCTACC	0.353000													5	50					0	0	0.000602214	0	0
SGMS1	259230	broad.mit.edu	37	10	52103419	52103419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52103419C>T	ENST00000361781.2	-	7	1415	c.456G>A	c.(454-456)atG>atA	p.M152I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.M152I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	158					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CGACCGAGATCATCACTGTGG	0.517000													8	32					0	0	0.000157383	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698519	96698519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96698519G>A	ENST00000260682.6	+	1	92	c.80G>A	c.(79-81)gGa>gAa	p.G27E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	27					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTGGGAGAGGAAAACTCCCT	0.458000													5	43					0	0	3.59834e-05	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543099	167543099	+	Silent	SNP	C	C	T	rs149238028		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:167543099C>T	ENST00000295777.5	+	9	1652	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Silent_p.F407F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	407					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GACATGATTTCGAAGAACTTT	0.338000													30	130					0	0	0.000409698	0	0
DST	667	broad.mit.edu	37	6	56324944	56324944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:56324944G>A	ENST00000370754.5	-	101	22974	c.22975C>T	c.(22975-22977)Cga>Tga	p.R7659*	DST_ENST00000421834.2_Nonsense_Mutation_p.R5366*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.R7155*|DST_ENST00000244364.6_Nonsense_Mutation_p.R5080*|DST_ENST00000370788.2_Nonsense_Mutation_p.R5284*|DST_ENST00000361203.3_Nonsense_Mutation_p.R7370*|DST_ENST00000370769.4_Nonsense_Mutation_p.R7481*			Q03001	DYST_HUMAN	dystonin	7479					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTGTGTTCGGACTCTGGCA	0.473000													4	29					0	0	0.00024832	0	0
LIN7A	8825	broad.mit.edu	37	12	81205453	81205453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:81205453C>T	ENST00000552864.1	-	5	695	c.493G>A	c.(493-495)Gga>Aga	p.G165R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	165	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGTGTTCTCCTTCCACACTC	0.433000													12	40					0	0	0.000219431	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413477	26413477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:26413477G>A	ENST00000289361.6	+	10	1467	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E315K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	367	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCGTGCCAAGGAGCCCCAGGA	0.507000													10	79					0	0	0.000442599	0	0
NPY2R	4887	broad.mit.edu	37	4	156136139	156136139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:156136139C>T	ENST00000329476.3	+	2	1537	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	NPY2R_ENST00000506608.1_Missense_Mutation_p.H350Y	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	350					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGATGCCATTCACTCTGAGGT	0.507000													9	52					0	0	0.000442599	0	0
NOL11	25926	broad.mit.edu	37	17	65714119	65714119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:65714119C>T	ENST00000253247.4	+	1	171	c.56C>T	c.(55-57)cCt>cTt	p.P19L	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	19						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCGCCGGGCCTGAAGGACTC	0.562000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	50					0	0	0.000219431	0	0
LPAR1	1902	broad.mit.edu	37	9	113704006	113704006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113704006C>T	ENST00000374431.3	-	4	871	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	LPAR1_ENST00000358883.4_Missense_Mutation_p.R163Q|LPAR1_ENST00000541779.1_Missense_Mutation_p.R164Q|LPAR1_ENST00000538760.1_Missense_Mutation_p.R164Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R163Q	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	163					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CACCACTACCCGCCGGTTGCT	0.517000													6	31					0	0	3.59834e-05	0	0
SGSM2	9905	broad.mit.edu	37	17	2266311	2266311	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:2266311G>A	ENST00000268989.3	+	6	732	c.555G>A	c.(553-555)aaG>aaA	p.K185K	SGSM2_ENST00000574563.1_Silent_p.K185K|SGSM2_ENST00000574650.1_3'UTR|SGSM2_ENST00000426855.2_Silent_p.K185K	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	185	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AATACACTAAGCTCAAGACAG	0.617000													9	38					0	0	0.000978159	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222828	118222828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:118222828C>T	ENST00000402510.2	-	11	2364	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	789										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCATCCCCCTCCTCAGGAATA	0.453000													9	13					0	0	0.00010058	0	0
SPOPL	339745	broad.mit.edu	37	2	139308617	139308617	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:139308617A>T	ENST00000280098.4	+	4	724	c.345A>T	c.(343-345)aaA>aaT	p.K115N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	115	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGAAACAAAAGCAATGGGTA	0.353000													6	48					0	0	8.12818e-05	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383033	7383033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:7383033C>T	ENST00000355637.4	+	1	283	c.31C>T	c.(31-33)Cct>Tct	p.P11S	RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P11S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P11S|RBFOX1_ENST00000422070.4_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCTCCTGCATCCTTATGGCGT	0.483000													9	47					0	0	0.000442599	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402614	89402614	+	RNA	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89402614G>T	ENST00000532352.1	+	0	851							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGCTGGAGAGGAAGTCTCAAA	0.383000													10	68					1.08611e-07	9.60488e-07	0.000978159	1	0
ALOXE3	59344	broad.mit.edu	37	17	8015463	8015463	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:8015463C>T	ENST00000380149.1	-	6	1230	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	ALOXE3_ENST00000448843.2_Silent_p.K244K|ALOXE3_ENST00000318227.3_Silent_p.K376K			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	244	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CATCCAGCTTCTTCCAGGAGC	0.542000													20	134					0	0	0.000878237	0	0
TNIP3	79931	broad.mit.edu	37	4	122085294	122085294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:122085294C>T	ENST00000507879.1	-	4	256	c.197G>A	c.(196-198)gGa>gAa	p.G66E	TNIP3_ENST00000509841.1_Missense_Mutation_p.G73E|TNIP3_ENST00000057513.3_5'UTR|TNIP3_ENST00000454328.1_5'UTR	NM_001128843.2	NP_001122315.2	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	77										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGCTGTTTTTCCTGGAGTCTT	0.388000													11	31					0	0	0.000978159	0	0
SGIP1	84251	broad.mit.edu	37	1	67195044	67195044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:67195044C>T	ENST00000371037.4	+	20	1917	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	SGIP1_ENST00000371036.3_Missense_Mutation_p.R416W|SGIP1_ENST00000371039.1_Missense_Mutation_p.R417W|SGIP1_ENST00000435165.2_Missense_Mutation_p.R119W|SGIP1_ENST00000237247.6_Missense_Mutation_p.R645W|SGIP1_ENST00000371035.3_Missense_Mutation_p.R404W	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	614					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCTGACTTTTCGGGTGATAAA	0.448000													5	53					0	0	0.000602214	0	0
TRIM3	10612	broad.mit.edu	37	11	6477301	6477301	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6477301C>T	ENST00000525074.1	-	7	1928		c.e7+1		TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3						nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGTGCTTACCTGAATACAC	0.488000													6	33					0	0	8.12818e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36893645	36893645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:36893645C>T	ENST00000429976.2	-	13	4856	c.4609G>A	c.(4609-4611)Gcc>Acc	p.A1537T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A987T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A987T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1537					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTGGTGGGCTCCAAATTCA	0.388000													7	23					0	0	8.12818e-05	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558106	140558106	+	Missense_Mutation	SNP	G	G	A	rs150947375		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140558106G>A	ENST00000239444.2	+	1	736	c.491G>A	c.(490-492)gGc>gAc	p.G164D		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		164	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATATAGGCCAAAACAAT	0.458000													14	84					0	0	0.00074312	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232725	172232725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:172232725C>T	ENST00000241261.2	-	2	318	c.196G>A	c.(196-198)Gac>Aac	p.D66N	TNFSF10_ENST00000420541.2_Missense_Mutation_p.D66N	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	66					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCATTGGGGTCCCAATAACTG	0.448000													21	93					0	0	0.000175454	0	0
IGHG3	3502	broad.mit.edu	37	14	106235703	106235703	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:106235703G>A	ENST00000390551.2	-	0	1003																											TGCTGTAGAGGAAGAAGGAGC	0.602000													17	124					0	0	0.000175454	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060923	90060923	+	RNA	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:90060923C>T	ENST00000436451.2	+	0	337																											GGACAGATTTCACCCTCACCA	0.483000													6	64					0	0	8.12818e-05	0	0
TRGV8	6982	broad.mit.edu	37	7	38370461	38370461	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:38370461G>A	ENST00000390343.2	-	0	75																											GGGACCAGACGAAGAGGAGCA	0.522000													4	17					0	0	0.00024832	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665134	6665134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:6665134C>T	ENST00000326176.9	-	5	799	c.418G>A	c.(418-420)Gag>Aag	p.E140K	TNFSF14_ENST00000245912.3_Missense_Mutation_p.E140K|TNFSF14_ENST00000599359.1_Missense_Mutation_p.E176K	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	176					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCTCCAGCTCCTCGGGGTAG	0.677000													9	40					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	8994489	8994489	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8994489G>A	ENST00000397910.4	-	64	41606	c.41403C>T	c.(41401-41403)aaC>aaT	p.N13801N	MUC16_ENST00000380951.5_Silent_p.N442N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13803	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATACCGCAGGTTAGTGATGG	0.507000													9	41					0	0	0.000274275	0	0
PML	5371	broad.mit.edu	37	15	74327994	74327994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:74327994C>T	ENST00000268059.6	+	8	2288	c.2192C>T	c.(2191-2193)tCc>tTc	p.S731F	PML_ENST00000268058.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S683F|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCTGTGCGATCCCGCAGCCGC	0.612000			T	"""RARA, PAX5"""	"""APL, ALL"""								14	73					0	0	0.000566183	0	0
ASIC4	55515	broad.mit.edu	37	2	220396802	220396802	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:220396802C>T	ENST00000358078.4	+	3	1202	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Silent_p.F396F			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	396						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										AGCTGGGGTTCGGGGTGTCCC	0.622000													12	54					0	0	0.000151284	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708190	36708190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:36708190C>T	ENST00000264659.7	-	14	2883	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G921R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	759					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGTTGCCCCCCTTGGGGGTA	0.622000													7	34					0	0	0.000442599	0	0
EDN3	1908	broad.mit.edu	37	20	57876762	57876762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:57876762G>A	ENST00000311585.7	+	2	720	c.350G>A	c.(349-351)tGg>tAg	p.W117*	EDN3_ENST00000371025.3_Nonsense_Mutation_p.W117*|EDN3_ENST00000337938.2_Nonsense_Mutation_p.W117*|EDN3_ENST00000371028.2_Nonsense_Mutation_p.W117*|EDN3_ENST00000395654.3_Nonsense_Mutation_p.W117*	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	117		Cleavage; by KEL.			cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACATCATTTGGATCAACACT	0.597000													23	62					0	0	0.000720815	0	0
FRG1B	284802	broad.mit.edu	37	20	29632629	29632629	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:29632629C>T	ENST00000278882.3	+	8	824	c.444C>T	c.(442-444)ttC>ttT	p.F148F	FRG1B_ENST00000358464.4_Silent_p.F148F																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTCAGAGCTTCCAAGACCACA	0.299000													14	504					0	0	0.000308642	0	0
AOC1	26	broad.mit.edu	37	7	150558278	150558278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150558278G>A	ENST00000493429.1	+	7	2821	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	AOC1_ENST00000416793.2_Missense_Mutation_p.G765E|AOC1_ENST00000467291.1_Missense_Mutation_p.G746E|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.G746E					amine oxidase, copper containing 1																		AGCTACAATGGGACCTATAGA	0.607000													9	11					0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21229223	21229223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:21229223G>A	ENST00000233242.1	-	26	10644	c.10517C>T	c.(10516-10518)tCt>tTt	p.S3506F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3506	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTCCCGAGAAAGAACCGA	0.453000													41	254					0	0	0.000319135	0	0
ZDBF2	57683	broad.mit.edu	37	2	207162010	207162010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:207162010G>A	ENST00000374423.3	+	4	487	c.101G>A	c.(100-102)aGt>aAt	p.S34N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	34							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCAGACAGAGTAGACGTCAA	0.388000													8	41					0	0	0.000274275	0	0
RUSC2	9853	broad.mit.edu	37	9	35560484	35560484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35560484G>A	ENST00000455600.1	+	10	4416	c.3847G>A	c.(3847-3849)Gat>Aat	p.D1283N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1283						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTACATCGATGGCTCCAT	0.662000													11	47					0	0	0.000219431	0	0
CALHM1	255022	broad.mit.edu	37	10	105215178	105215178	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105215178C>T	ENST00000329905.5	-	2	1018	c.882G>A	c.(880-882)acG>acA	p.T294T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	294						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGCCTTGATCCGTGATGCCAC	0.667000													5	37					0	0	3.59834e-05	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895803	131895803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:131895803C>T	ENST00000359827.3	-	10	3159	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G733R			Q9HCM2	PLXA4_HUMAN	plexin A4	733						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACGCTGCCCAGACTGGGGC	0.627000													4	8					0	0	0.00024832	0	0
SMR3B	10879	broad.mit.edu	37	4	71255473	71255473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:71255473C>T	ENST00000304915.3	+	3	297	c.148C>T	c.(148-150)Cct>Tct	p.P50S	SMR3B_ENST00000504825.1_Missense_Mutation_p.P50S	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				TCCACCACCTCCTCCTCCACC	0.602000													6	24					0	0	3.59834e-05	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432331	107432331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107432331G>A	ENST00000340010.5	-	4	510	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S74F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	109					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGGGAAAAAGGATGCATACAA	0.453000													39	59					0	0	0.000781405	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688717	65688717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:65688717G>A	ENST00000335257.6	+	9	1059	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PITPNC1_ENST00000581322.1_Missense_Mutation_p.E238K|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	238					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CCGAGAATTTGAACGAGCCAC	0.453000													17	68					0	0	0.000958276	0	0
CACNA1C	775	broad.mit.edu	37	12	2693694	2693694	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:2693694C>T	ENST00000399655.1	+	16	2515	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	CACNA1C_ENST00000327702.7_Silent_p.A750A|CACNA1C_ENST00000399634.1_Silent_p.A750A|CACNA1C_ENST00000480911.1_Silent_p.A750A|CACNA1C_ENST00000399629.1_Silent_p.A750A|CACNA1C_ENST00000399617.1_Silent_p.A750A|CACNA1C_ENST00000406454.3_Silent_p.A750A|CACNA1C_ENST00000399591.1_Silent_p.A750A|CACNA1C_ENST00000399637.1_Silent_p.A750A|CACNA1C_ENST00000399603.1_Silent_p.A750A|CACNA1C_ENST00000399601.1_Silent_p.A750A|CACNA1C_ENST00000399597.1_Silent_p.A750A|CACNA1C_ENST00000399641.1_Silent_p.A750A|CACNA1C_ENST00000347598.4_Silent_p.A750A|CACNA1C_ENST00000399621.1_Silent_p.A750A|CACNA1C_ENST00000399638.1_Silent_p.A750A|CACNA1C_ENST00000335762.5_Silent_p.A775A|CACNA1C_ENST00000399606.1_Silent_p.A750A|CACNA1C_ENST00000399595.1_Silent_p.A750A|CACNA1C_ENST00000402845.3_Silent_p.A750A|CACNA1C_ENST00000399649.1_Silent_p.A750A|CACNA1C_ENST00000399644.1_Silent_p.A750A|CACNA1C_ENST00000344100.3_Silent_p.A750A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	750					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTTCTTGGCCATTGCTGTGG	0.512000													6	28					0	0	3.59834e-05	0	0
KIFC1	3833	broad.mit.edu	37	6	33374649	33374649	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:33374649C>T	ENST00000428849.2	+	10	2424	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	658					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTTTGCCTCCAAGGTGCGAT	0.517000													5	35					0	0	0.000602214	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969132	118969132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118969132C>A	ENST00000409993.2	-	7	2260	c.709G>T	c.(709-711)Gga>Tga	p.G237*	DPAGT1_ENST00000432443.2_Nonsense_Mutation_p.G130*|DPAGT1_ENST00000354202.4_Nonsense_Mutation_p.G237*			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	237					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TAGAGCAATCCCAAAGTGGTG	0.438000													8	98					0.000442599	0.00383804	0.000442599	1	0
SEC24D	9871	broad.mit.edu	37	4	119745842	119745842	+	Missense_Mutation	SNP	G	G	A	rs143180885	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:119745842G>A	ENST00000379735.5	-	3	452	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P61S	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	61	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGAGGTGGGGGACCCGGAGGC	0.542000													9	87					0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10404624	10404624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10404624C>T	ENST00000226207.5	-	27	3635	c.3541G>A	c.(3541-3543)Gac>Aac	p.D1181N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1181						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGGTCCCTGCGCATT	0.597000													10	69					0	0	0.000442599	0	0
STK31	56164	broad.mit.edu	37	7	23826463	23826463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:23826463C>T	ENST00000354639.3	+	20	2802	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	STK31_ENST00000433467.2_Missense_Mutation_p.P803S|STK31_ENST00000428484.1_Missense_Mutation_p.P780S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.P803S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	803	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGTCTGATCCTATGGCTTA	0.348000													10	58					0	0	0.000442599	0	0
CDH10	1008	broad.mit.edu	37	5	24537561	24537561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:24537561C>T	ENST00000264463.4	-	3	961	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	152	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGATATCATGAATTTTG	0.413000										HNSCC(23;0.051)			7	28					0	0	8.12818e-05	0	0
TUB	7275	broad.mit.edu	37	11	8111203	8111203	+	Missense_Mutation	SNP	C	C	T	rs139035034		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:8111203C>T	ENST00000305253.4	+	3	491	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	TUB_ENST00000299506.2_Missense_Mutation_p.R29W|TUB_ENST00000534099.1_Missense_Mutation_p.R35W	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	29					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GAAGCTTGATCGGCAGGTGAG	0.592000													6	40					0	0	0.000673444	0	0
SOX5	6660	broad.mit.edu	37	12	23699250	23699250	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:23699250C>T	ENST00000546136.1	-	11	1560	c.1558_splice	c.e11+1	p.G520_splice	SOX5_ENST00000309359.1_Splice_Site_p.G520_splice|SOX5_ENST00000537393.1_Splice_Site_p.G498_splice|SOX5_ENST00000381381.2_Splice_Site_p.G412_splice|SOX5_ENST00000396007.2_Splice_Site_p.G147_splice|SOX5_ENST00000545921.1_Splice_Site_p.G523_splice|SOX5_ENST00000451604.2_Splice_Site_p.G533_splice|SOX5_ENST00000541536.1_Splice_Site_p.G412_splice			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	533					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTCACAAACCATCAGAATCT	0.368000													8	54					0	0	0.000274275	0	0
CLCC1	23155	broad.mit.edu	37	1	109486173	109486173	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:109486173C>A	ENST00000369971.2	-	6	755	c.626G>T	c.(625-627)tGg>tTg	p.W209L	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000415331.1_Missense_Mutation_p.W159L|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.W159L|CLCC1_ENST00000369976.1_Missense_Mutation_p.W209L|CLCC1_ENST00000356970.2_Missense_Mutation_p.W209L|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000302500.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTGAGTGTACCAACGTACATA	0.393000													9	304					0.000978159	0.00844315	0.000978159	1	0
SLC6A5	9152	broad.mit.edu	37	11	20673885	20673885	+	Silent	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:20673885T>A	ENST00000525748.1	+	15	2394	c.2121T>A	c.(2119-2121)tcT>tcA	p.S707S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	707					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTATGGCTCTTACCGCTATC	0.478000													14	70					0	0	0.000308642	0	0
NRXN1	9378	broad.mit.edu	37	2	50724759	50724759	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:50724759T>C	ENST00000404971.1	-	15	4050	c.2711A>G	c.(2710-2712)aAc>aGc	p.N904S	NRXN1_ENST00000406859.3_Missense_Mutation_p.N864S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.N856S|NRXN1_ENST00000406316.2_Missense_Mutation_p.N864S|NRXN1_ENST00000405472.3_Missense_Mutation_p.N856S|NRXN1_ENST00000401669.2_Missense_Mutation_p.N864S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	864					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCAATGAAGTTGGAGGGGAC	0.428000													5	24					0	0	0.000602214	0	0
GLMN	11146	broad.mit.edu	37	1	92754651	92754651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:92754651C>T	ENST00000370360.3	-	6	533	c.452G>A	c.(451-453)tGg>tAg	p.W151*	GLMN_ENST00000534881.1_Nonsense_Mutation_p.W151*	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	151					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TAGCTGATTCCAAAGGGTAGA	0.373000									Multiple Glomus Tumors (of the Skin), Familial				13	40					0	0	0.00010058	0	0
ATP10D	57205	broad.mit.edu	37	4	47589102	47589102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47589102G>A	ENST00000273859.3	+	22	4089	c.3820G>A	c.(3820-3822)Gga>Aga	p.G1274R		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1274					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CATAGTTTTTGGAGCCATGTG	0.418000													11	64					0	0	0.000978159	0	0
DCDC1	341019	broad.mit.edu	37	11	31312296	31312296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:31312296C>T	ENST00000597505.1	-	5	857	c.858G>A	c.(856-858)atG>atA	p.M286I	DCDC1_ENST00000452803.1_Missense_Mutation_p.M286I			P59894	DCDC1_HUMAN	doublecortin domain containing 1	286					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TAAGTTTCTTCATTCTAATAG	0.383000													11	37					0	0	0.00010058	0	0
PTPN21	11099	broad.mit.edu	37	14	88945348	88945348	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:88945348G>A	ENST00000556564.1	-	13	2711	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PTPN21_ENST00000328736.3_Silent_p.A809A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	809						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTCCCTCCGGGCTCGGTAGC	0.662000													6	51					0	0	3.59834e-05	0	0
TOP3B	8940	broad.mit.edu	37	22	22323083	22323083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:22323083G>A	ENST00000398793.2	-	7	1080	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.P216S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	216					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTCTGACACGGCCCAAAGGAG	0.478000													15	34					0	0	0.000219431	0	0
RTL1	388015	broad.mit.edu	37	14	101350937	101350937	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:101350937G>A	ENST00000534062.1	-	1	247	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	63										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCATTTCCTGGAGTGGGCCAC	0.622000													6	28					0	0	3.59834e-05	0	0
COL25A1	84570	broad.mit.edu	37	4	109817828	109817828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:109817828C>T	ENST00000399132.1	-	16	1431	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	COL25A1_ENST00000399127.1_Missense_Mutation_p.E297K|COL25A1_ENST00000399126.1_Missense_Mutation_p.E301K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	301	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGTACCTTTTCGCCTGTGTCA	0.423000													7	51					0	0	0.000274275	0	0
ARGFX	503582	broad.mit.edu	37	3	121304947	121304947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121304947C>T	ENST00000334384.3	+	4	458	c.448C>T	c.(448-450)Cca>Tca	p.P150S		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCAGATCCTTCCATCCAAGAA	0.512000													10	43					0	0	0.000442599	0	0
P4HA3	283208	broad.mit.edu	37	11	74013503	74013503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:74013503G>A	ENST00000331597.4	-	3	523	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	P4HA3_ENST00000427714.2_Nonsense_Mutation_p.Q160*	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	160						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTGACTCTCTGAAAGACACCT	0.547000													19	74					0	0	0.000175454	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533972	156533972	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:156533972C>T	ENST00000307851.4	-	2	790	c.58_splice	c.e2-1	p.R20_splice	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Splice_Site_p.R20_splice	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	20						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTGAGGACCCTGCATAGA	0.547000													26	130					0	0	0.000586117	0	0
PLCB1	23236	broad.mit.edu	37	20	8755313	8755313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:8755313C>T	ENST00000378641.3	+	27	3533	c.3058C>T	c.(3058-3060)Cgg>Tgg	p.R1020W	PLCB1_ENST00000378637.2_Missense_Mutation_p.R1020W|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.R1020W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1020					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCTTAATCTTCGGCAAGAACA	0.408000													6	42					0	0	8.12818e-05	0	0
ADAM2	2515	broad.mit.edu	37	8	39624427	39624427	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:39624427T>A	ENST00000265708.4	-	14	1550	c.1447A>T	c.(1447-1449)Atc>Ttc	p.I483F	ADAM2_ENST00000347580.4_Missense_Mutation_p.I464F|ADAM2_ENST00000379853.2_Missense_Mutation_p.I357F|ADAM2_ENST00000521880.1_Missense_Mutation_p.I483F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	483	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTATACAGATCCATTGATTC	0.388000													8	104					0	0	0.000442599	0	0
ODF2	4957	broad.mit.edu	37	9	131246222	131246222	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:131246222A>G	ENST00000303890.5	+	13	1506	c.921A>G	c.(919-921)caA>caG	p.Q307Q	ODF2_ENST00000351030.3_Silent_p.Q326Q|ODF2_ENST00000546203.1_Silent_p.Q312Q|ODF2_ENST00000444119.2_Silent_p.Q307Q|ODF2_ENST00000372807.5_Silent_p.Q326Q|ODF2_ENST00000372796.4_Silent_p.Q331Q|ODF2_ENST00000372791.3_Silent_p.Q312Q|ODF2_ENST00000372814.3_Silent_p.Q375Q|ODF2_ENST00000393533.2_Silent_p.Q331Q|ODF2_ENST00000434106.2_Silent_p.Q331Q|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Silent_p.Q250Q	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	331					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CACAGGCTCAAGCAAAGACAG	0.507000													11	57					0	0	0.000978159	0	0
GRIA2	2891	broad.mit.edu	37	4	158233926	158233926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:158233926G>A	ENST00000296526.7	+	4	890	c.565G>A	c.(565-567)Gat>Aat	p.D189N	GRIA2_ENST00000264426.9_Missense_Mutation_p.D189N|GRIA2_ENST00000393815.2_Missense_Mutation_p.D142N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D142N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D142N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	189					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGACAAGAAAGATGAGATGTA	0.408000													5	24					0	0	3.59834e-05	0	0
AGXT2	64902	broad.mit.edu	37	5	35037082	35037082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35037082C>T	ENST00000231420.6	-	4	651	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	151					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCAAGCTTCTCTGCATATTCA	0.502000													15	64					0	0	0.000566183	0	0
ITIH1	3697	broad.mit.edu	37	3	52816017	52816017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:52816017C>T	ENST00000273283.2	+	7	773	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ITIH1_ENST00000542827.1_Missense_Mutation_p.S250F|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S108F|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	250					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTCTACATCCTTACTGAAC	0.572000													16	34					0	0	0.000422831	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708189	36708189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:36708189C>T	ENST00000264659.7	-	14	2884	c.2660G>A	c.(2659-2661)gGg>gAg	p.G887E	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G921E|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	759					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGGTTGCCCCCCTTGGGGGT	0.622000													7	34					0	0	0.000442599	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090796	115090796	+	Silent	SNP	C	C	T	rs142049023		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:115090796C>T	ENST00000361283.1	+	3	1788	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	493	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AACCTGTCTTCCCTGAGACCC	0.498000													26	157					0	0	0.000720815	0	0
TMC5	79838	broad.mit.edu	37	16	19471576	19471576	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:19471576C>T	ENST00000396229.2	+	6	1817	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TMC5_ENST00000381414.4_Silent_p.S356S|TMC5_ENST00000564959.1_Silent_p.S18S|TMC5_ENST00000542583.2_Silent_p.S356S|TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000219821.5_Silent_p.S110S|TMC5_ENST00000541464.1_Silent_p.S356S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	356						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAATCGCATCCCTTATACCCA	0.388000													5	39					0	0	3.59834e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23896073	23896073	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:23896073C>T	ENST00000355349.3	-	18	2119	c.1956_splice	c.e18-1	p.E653_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	653	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGATTTTCCTGTGGCCAA	0.438000													9	25					0	0	0.000274275	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956283	18956283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:18956283C>T	ENST00000302797.3	-	1	273	c.49G>A	c.(49-51)Gga>Aga	p.G17R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	17					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G17L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTCAGTTCCGTTGATTGGT	0.517000													14	150					0	0	0.00074312	0	0
CDH10	1008	broad.mit.edu	37	5	24593423	24593423	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:24593423A>T	ENST00000264463.4	-	2	684	c.177T>A	c.(175-177)aaT>aaA	p.N59K	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	59	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAAAAATTGATTCCACATCC	0.383000										HNSCC(23;0.051)			12	81					0	0	0.000219431	0	0
N4BP2	55728	broad.mit.edu	37	4	40123874	40123874	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:40123874C>T	ENST00000261435.6	+	9	4559	c.4143C>T	c.(4141-4143)ccC>ccT	p.P1381P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1381						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGGCATTACCCCCTGAACTGG	0.418000													11	78					0	0	0.000978159	0	0
MROH2B	133558	broad.mit.edu	37	5	41010127	41010127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:41010127C>T	ENST00000399564.4	-	31	3640	c.3190G>A	c.(3190-3192)Gaa>Aaa	p.E1064K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E619K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAACTTTCTTCTTTTTGTCTG	0.403000													8	40					0	0	0.000274275	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942649	24942649	+	Silent	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:24942649T>A	ENST00000289968.6	-	19	2040	c.1971A>T	c.(1969-1971)tcA>tcT	p.S657S	ARHGAP17_ENST00000303665.5_Silent_p.S579S|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	657	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAGATGTTCCTGAAGAACTCT	0.622000													11	82					0	0	0.000673444	0	0
RELN	5649	broad.mit.edu	37	7	103341446	103341446	+	Silent	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:103341446A>G	ENST00000428762.1	-	9	972	c.813T>C	c.(811-813)ggT>ggC	p.G271G	RELN_ENST00000343529.5_Silent_p.G271G|RELN_ENST00000424685.2_Silent_p.G271G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	271					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCGACATGAACCTGACCCTG	0.313000													27	34					0	0	0.00106085	0	0
IL21	59067	broad.mit.edu	37	4	123536858	123536858	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:123536858C>T	ENST00000264497.3	-	3	396	c.339G>A	c.(337-339)ggG>ggA	p.G113G		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	106					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTGTCTTCTCCCTGCATTTG	0.348000													20	61					0	0	0.000295444	0	0
RHBG	57127	broad.mit.edu	37	1	156351917	156351917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:156351917G>A	ENST00000400992.2	+	7	1309	c.941G>A	c.(940-942)gGg>gAg	p.G314E	RHBG_ENST00000537040.1_Missense_Mutation_p.G179R|RHBG_ENST00000255013.3_Missense_Mutation_p.G277E|RHBG_ENST00000451864.2_Missense_Mutation_p.G268E|RHBG_ENST00000368249.1_Missense_Mutation_p.G346E|RHBG_ENST00000368246.2_Missense_Mutation_p.G346E			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	346					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AACCTCCATGGGATGCCGGGG	0.577000													28	86					0	0	0.000279167	0	0
KAZN	23254	broad.mit.edu	37	1	15382772	15382772	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:15382772G>A	ENST00000376030.2	+	5	1206	c.912G>A	c.(910-912)cgG>cgA	p.R304R	KAZN_ENST00000400797.3_Silent_p.R210R|KAZN_ENST00000503743.1_Silent_p.R304R|KAZN_ENST00000400798.2_Silent_p.R210R|KAZN_ENST00000422387.2_Silent_p.R304R|KAZN_ENST00000361144.5_Silent_p.R298R	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	304	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTGCGGACCGGCAAGGTGAGT	0.647000													4	11					0	0	0.00024832	0	0
GALNT15	117248	broad.mit.edu	37	3	16242266	16242266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:16242266G>A	ENST00000339732.5	+	3	1350	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D283N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CGTCTTCATGGATGCCCACTG	0.612000													6	18					0	0	0.000157383	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695058	48695058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:48695058G>A	ENST00000236495.5	+	5	556	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R165Q|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R144Q|SLC5A9_ENST00000420136.2_Missense_Mutation_p.R137Q	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	144						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGAAGAAGCGATTTGGGGGC	0.557000													12	35					0	0	0.000978159	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676625	7676625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:7676625G>A	ENST00000446248.2	+	13	1428	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.D416N	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	416	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGACAGCGACGTGGATGT	0.731000											OREG0007838	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=KIAA1543|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	5	14					0	0	0.000602214	0	0
PALLD	23022	broad.mit.edu	37	4	169812121	169812121	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:169812121G>A	ENST00000335742.7	+	12	2896	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	PALLD_ENST00000512127.1_Silent_p.E289E|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Silent_p.E671E|PALLD_ENST00000505667.1_Silent_p.E671E|PALLD_ENST00000507735.1_Silent_p.E184E			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	895	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCTCCGATGAGGAAATTCAAG	0.443000									Pancreatic Cancer, Familial Clustering of				5	39					0	0	8.12818e-05	0	0
SLC44A4	80736	broad.mit.edu	37	6	31844842	31844842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31844842C>T	ENST00000229729.6	-	2	78	c.58G>A	c.(58-60)Gac>Aac	p.D20N	SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D20N|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	20						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAGGAGGGGTCGTATTTGACT	0.577000													25	176					0	0	0.00106085	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:32376410G>A	ENST00000298386.2	+	18	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_ENST00000380314.1_Silent_p.R687R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000													22	88					0	0	0.000175454	0	0
MEDAG	84935	broad.mit.edu	37	13	31495937	31495937	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:31495937C>T	ENST00000380482.4	+	4	1066	c.741C>T	c.(739-741)atC>atT	p.I247I	TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		AGCCTTTAATCCGAAGGAGCA	0.358000													5	51					0	0	3.59834e-05	0	0
AMICA1	120425	broad.mit.edu	37	11	118085557	118085557	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118085557G>A	ENST00000356289.5	-	2	198	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	AMICA1_ENST00000533261.1_Silent_p.L9L|AMICA1_ENST00000526620.1_Intron	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	9					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACTGGCAGCAGGATGAGTTTC	0.363000													12	67					0	0	0.000219431	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467107	21467107	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:21467107G>A	ENST00000281523.2	-	6	1247	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	243						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CCCTAGGAAAGGCTTTGATAG	0.433000													5	31					0	0	8.12818e-05	0	0
ANO5	203859	broad.mit.edu	37	11	22296268	22296268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:22296268G>A	ENST00000324559.8	+	20	2706	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	797						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCTTCGGAAAAACGAGA	0.373000													6	43					0	0	3.59834e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60688272	60688272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:60688272C>T	ENST00000335712.6	-	4	2002	c.1775G>A	c.(1774-1776)gGc>gAc	p.G592D	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.G558D|BCL11A_ENST00000538214.1_Missense_Mutation_p.G558D|BCL11A_ENST00000537768.1_Missense_Mutation_p.G261D|BCL11A_ENST00000356842.4_Missense_Mutation_p.G592D	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	592					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTCCGACTCGCCGGCCACCGA	0.687000			T	IGH@	B-CLL								42	130					0	0	0.000781405	0	0
EPHA3	2042	broad.mit.edu	37	3	89521623	89521623	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:89521623C>T	ENST00000336596.2	+	16	2925	c.2700C>T	c.(2698-2700)aaC>aaT	p.N900N	EPHA3_ENST00000494014.1_Silent_p.N900N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	900						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCCATCAAACCTTCTTCTGG	0.468000										TSP Lung(6;0.00050)			12	75					0	0	0.000308642	0	0
CPNE5	57699	broad.mit.edu	37	6	36714178	36714178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36714178G>A	ENST00000244751.2	-	16	1819	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S	CPNE5_ENST00000393189.2_Missense_Mutation_p.P107S|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	399	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTACCAGTGGGAACTCGTGG	0.642000													11	33					0	0	0.000151284	0	0
IL17A	3605	broad.mit.edu	37	6	52052552	52052552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:52052552C>T	ENST00000340057.1	+	2	224	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	60					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AATACCAATCCCAAAAGGTCC	0.448000													10	70					0	0	0.000673444	0	0
GPR182	11318	broad.mit.edu	37	12	57389215	57389215	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:57389215G>A	ENST00000300098.1	+	2	441	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACCTCCTGGTGATATGCGTCA	0.617000													21	96					0	0	0.000375601	0	0
OR13C3	138803	broad.mit.edu	37	9	107298727	107298727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:107298727G>A	ENST00000374781.2	-	1	410	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCCAGAGAAGGAAATGTTTCT	0.443000													5	47					0	0	0.000602214	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562564	140562564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140562564G>A	ENST00000361016.2	+	1	1585	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		144	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E144K(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAATACCGGAAAACAGTCC	0.388000													7	46					0	0	8.12818e-05	0	0
TNN	63923	broad.mit.edu	37	1	175052918	175052918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:175052918G>A	ENST00000239462.4	+	5	1194	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	361	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGGTGACAGATGAGACTGA	0.562000													10	28					0	0	0.000673444	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018272	161018272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161018272C>T	ENST00000368013.3	-	12	2859	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G670R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	847	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTGGTCTCCCTCAGCCTCT	0.572000													32	112					0	0	0.000814825	0	0
OR52L1	338751	broad.mit.edu	37	11	6007440	6007440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6007440G>A	ENST00000332249.4	-	1	775	c.721C>T	c.(721-723)Cag>Tag	p.Q241*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTGCCTGGAGGATGTGG	0.512000													10	56					0	0	0.00010058	0	0
PRG4	10216	broad.mit.edu	37	1	186276033	186276033	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:186276033G>A	ENST00000445192.2	+	7	1227	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	PRG4_ENST00000367486.3_Silent_p.K351K|PRG4_ENST00000367484.3_Silent_p.K353K|PRG4_ENST00000367483.4_Silent_p.K353K|PRG4_ENST00000367485.4_Silent_p.K301K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	394	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.642000													19	54					0	0	0.000132079	0	0
AGBL2	79841	broad.mit.edu	37	11	47698906	47698906	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:47698906G>A	ENST00000525123.1	-	14	2349	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	AGBL2_ENST00000528244.1_Silent_p.I650I|AGBL2_ENST00000298861.4_Silent_p.I688I|AGBL2_ENST00000357610.3_Silent_p.I688I|AGBL2_ENST00000529712.1_Intron	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	688					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATTTCTTGTGGATTTCCTGTC	0.323000													5	34					0	0	3.59834e-05	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831900	34831900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:34831900G>A	ENST00000192788.5	+	15	3508	c.3337G>A	c.(3337-3339)Gat>Aat	p.D1113N	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D1113N	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1113										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTCTCATTGGATAGCAGTGG	0.527000													19	111					0	0	0.000132079	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521715	125521715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:125521715G>A	ENST00000431078.1	+	16	2885	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	841	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373000													11	30					0	0	0.000151284	0	0
HRNR	388697	broad.mit.edu	37	1	152188265	152188265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152188265G>A	ENST00000368801.2	-	3	5915	c.5840C>T	c.(5839-5841)cCt>cTt	p.P1947L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1947					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGGGCTAGGAGACTGGCC	0.602000													9	269					0	0	0.00010058	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254941	24254941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:24254941G>A	ENST00000538205.1	+	7	909	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.R200Q|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R121Q	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200			M -> T (in dbSNP:rs7007084).		integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGCCCAATTCGAATCTCTAGA	0.428000													8	49					0	0	0.000274275	0	0
ITGA11	22801	broad.mit.edu	37	15	68641217	68641217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:68641217G>A	ENST00000423218.2	-	10	1177	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	ITGA11_ENST00000315757.7_Missense_Mutation_p.S361F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	361					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGCCCAAAGGAGGTCTCGTT	0.587000													5	11					0	0	0.000602214	0	0
ABCA10	10349	broad.mit.edu	37	17	67218788	67218788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:67218788G>A	ENST00000269081.4	-	5	994	c.85C>T	c.(85-87)Cca>Tca	p.P29S	ABCA10_ENST00000423818.2_Missense_Mutation_p.P29S|ABCA10_ENST00000432313.2_Missense_Mutation_p.P29S|ABCA10_ENST00000416101.2_Missense_Mutation_p.P29S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	29					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTTTTTGGAAGTTCTATA	0.333000													9	43					0	0	0.000673444	0	0
FPR2	2358	broad.mit.edu	37	19	52272265	52272265	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:52272265C>T	ENST00000598776.1	+	2	1126	c.354C>T	c.(352-354)ttC>ttT	p.F118F	FPR2_ENST00000340023.6_Silent_p.F118F|FPR2_ENST00000598953.1_Silent_p.F118F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	118					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGATTGGTTTCATTGCACTGG	0.507000													10	56					0	0	0.000673444	0	0
TRIM47	91107	broad.mit.edu	37	17	73870972	73870972	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:73870972G>A	ENST00000254816.2	-	6	1535	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TRIM47_ENST00000587339.1_Silent_p.S265S	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	503	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTGTGGGGAGAAGTCTT	0.652000													10	46					0	0	0.00010058	0	0
MUC17	140453	broad.mit.edu	37	7	100684088	100684088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100684088G>A	ENST00000306151.4	+	3	9455	c.9391G>A	c.(9391-9393)Gac>Aac	p.D3131N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3131	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACACCAGCAC	0.493000													88	165					0	0	0.000781405	0	0
RBM28	55131	broad.mit.edu	37	7	127976096	127976096	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:127976096C>T	ENST00000223073.1	-	7	728	c.613_splice	c.e7-1	p.G205_splice	RBM28_ENST00000415472.2_Splice_Site_p.G64_splice	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	205					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTTTCCTCACCTATGGAGGG	0.368000													12	16					0	0	0.000566183	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034553	52034553	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:52034553G>A	ENST00000346477.3	-	2	356	c.288C>T	c.(286-288)ctC>ctT	p.L96L	SIGLEC6_ENST00000391797.3_Silent_p.L96L|SIGLEC6_ENST00000343300.4_Silent_p.L96L|SIGLEC6_ENST00000436458.1_Silent_p.L60L|SIGLEC6_ENST00000425629.3_Silent_p.L96L|SIGLEC6_ENST00000359982.4_Silent_p.L96L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	96	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGGGATCCCAGAGGAGGTGGA	0.547000													6	50					0	0	3.59834e-05	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870825	12870825	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:12870825T>C	ENST00000378847.3	+	11	1434	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	366						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCTCAGGAGTTGGAGCCGAG	0.612000													19	121					0	0	0.00047179	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767189	77767189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:77767189C>T	ENST00000521891.2	+	10	8480	c.8032C>T	c.(8032-8034)Ccg>Tcg	p.P2678S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2652S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2633S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2633S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAACGGTGTCCGTTTTGCCG	0.547000										HNSCC(33;0.089)			15	42					0	0	0.00074312	0	0
CPNE5	57699	broad.mit.edu	37	6	36716016	36716016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36716016C>T	ENST00000244751.2	-	15	1624	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CPNE5_ENST00000393189.2_Missense_Mutation_p.D42N|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	334	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGTGAAATCAATGGCCACA	0.592000													12	88					0	0	0.000219431	0	0
DOCK8	81704	broad.mit.edu	37	9	325674	325674	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:325674C>T	ENST00000432829.2	+	8	943	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DOCK8_ENST00000469391.1_Silent_p.F209F|DOCK8_ENST00000453981.1_Silent_p.F277F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358000													15	88					0	0	0.000958276	0	0
CGNL1	84952	broad.mit.edu	37	15	57731321	57731321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:57731321G>A	ENST00000281282.5	+	2	1202	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	375	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTGGGAAGCGAAACAGAATT	0.438000													28	46					0	0	0.00106085	0	0
PTPRT	11122	broad.mit.edu	37	20	40735465	40735465	+	Silent	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:40735465A>T	ENST00000373198.3	-	25	3652	c.3417T>A	c.(3415-3417)cgT>cgA	p.R1139R	PTPRT_ENST00000373190.1_Silent_p.R1116R|PTPRT_ENST00000373201.1_Silent_p.R1107R|PTPRT_ENST00000373184.1_Silent_p.R1127R|PTPRT_ENST00000373187.1_Silent_p.R1117R|PTPRT_ENST00000356100.2_Silent_p.R1126R|PTPRT_ENST00000373193.3_Silent_p.R1120R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1117	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCGGAGCTCACGCACGCAGT	0.582000													11	59					0	0	0.000978159	0	0
KLHL23	151230	broad.mit.edu	37	2	170591665	170591665	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:170591665T>G	ENST00000392647.2	+	2	385	c.141T>G	c.(139-141)atT>atG	p.I47M	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I47M	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	47	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGGCATAATTTTCCATTGTC	0.343000													24	142					0	0	0.000720815	0	0
IMPG1	3617	broad.mit.edu	37	6	76640691	76640691	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76640691T>G	ENST00000369950.3	-	15	2411	c.2222A>C	c.(2221-2223)cAg>cCg	p.Q741P	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	741					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCCTTTCCCTGGAGGACCTC	0.537000													5	35					0	0	3.59834e-05	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102984	13102984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:13102984G>A	ENST00000228887.1	-	1	334	c.335C>T	c.(334-336)tCc>tTc	p.S112F	RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.S112F|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	112						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTAGATTGGAGGCATGAGC	0.478000													9	38					0	0	0.000442599	0	0
COL1A2	1278	broad.mit.edu	37	7	94033878	94033878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:94033878G>A	ENST00000297268.6	+	7	761	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	97					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCTTAATGGGACCTAGAGGC	0.443000										HNSCC(75;0.22)			24	30					0	0	0.000878237	0	0
GLI3	2737	broad.mit.edu	37	7	42004228	42004228	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:42004228G>A	ENST00000395925.3	-	15	4527	c.4443C>T	c.(4441-4443)tcC>tcT	p.S1481S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1481					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGCACCTGGGGAAAGTAACT	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	23					0	0	0.000274275	0	0
CADPS2	93664	broad.mit.edu	37	7	122194668	122194668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:122194668C>T	ENST00000334010.7	-	8	1832	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	CADPS2_ENST00000313070.7_Missense_Mutation_p.D471N|CADPS2_ENST00000449022.2_Missense_Mutation_p.D471N|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000412584.2_Missense_Mutation_p.D471N	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	471					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAGTCAGAATCCTGGCTATTT	0.353000													5	14					0	0	3.59834e-05	0	0
PTHLH	5744	broad.mit.edu	37	12	28116391	28116391	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:28116391C>T	ENST00000535992.1	-	3	760	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PTHLH_ENST00000354417.3_Silent_p.K138K|PTHLH_ENST00000545234.1_Silent_p.K138K|PTHLH_ENST00000201015.4_Silent_p.K138K|PTHLH_ENST00000538310.1_Silent_p.K138K|PTHLH_ENST00000395868.3_Silent_p.K138K|PTHLH_ENST00000539239.1_Silent_p.K138K|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.K138K			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	138					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCCGTTTTTTCTTTTCCTGCT	0.547000													7	46					0	0	0.000157383	0	0
DMBT1	1755	broad.mit.edu	37	10	124336133	124336133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:124336133G>A	ENST00000368909.3	+	7	608	c.502G>A	c.(502-504)Gat>Aat	p.D168N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D168N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D168N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D168N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D168N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D168N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D168N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	168	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCCCTGGATGATGTGCGCTG	0.582000													10	60					0	0	0.000442599	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962530	37962530	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:37962530C>T	ENST00000249014.4	+	2	594	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	58					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGATGTCTTCGGGGACACGT	0.652000													12	22					0	0	0.000219431	0	0
OR9A4	130075	broad.mit.edu	37	7	141618714	141618714	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141618714C>T	ENST00000548136.1	+	1	98	c.39C>T	c.(37-39)ctC>ctT	p.L13L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AATTTTATCTCCTTGGCTTCC	0.378000													54	122					0	0	0.000781405	0	0
ABCA10	10349	broad.mit.edu	37	17	67218787	67218787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:67218787G>A	ENST00000269081.4	-	5	995	c.86C>T	c.(85-87)cCa>cTa	p.P29L	ABCA10_ENST00000423818.2_Missense_Mutation_p.P29L|ABCA10_ENST00000432313.2_Missense_Mutation_p.P29L|ABCA10_ENST00000416101.2_Missense_Mutation_p.P29L	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	29					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTATTTTTTTGGAAGTTCTAT	0.333000													10	46					0	0	0.000978159	0	0
BEND7	222389	broad.mit.edu	37	10	13481408	13481408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:13481408C>T	ENST00000341083.3	-	9	1467	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Missense_Mutation_p.E442K	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	442	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGTCCCTTTTCTTGTGACATT	0.557000													6	30					0	0	0.000157383	0	0
IRAK4	51135	broad.mit.edu	37	12	44165028	44165028	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:44165028T>A	ENST00000448290.2	+	3	238	c.167T>A	c.(166-168)tTt>tAt	p.F56Y	IRAK4_ENST00000551736.1_Missense_Mutation_p.F56Y|IRAK4_ENST00000431837.1_Intron|IRAK4_ENST00000440781.2_Intron	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	56	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTAAGGAGATTTGAAGCATTA	0.348000													5	30					0	0	0.000602214	0	0
FLII	2314	broad.mit.edu	37	17	18150579	18150579	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:18150579G>A	ENST00000327031.4	-	21	2805	c.2580C>T	c.(2578-2580)tcC>tcT	p.S860S	FLII_ENST00000579294.1_Silent_p.S849S|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.S805S|FLII_ENST00000379450.4_Silent_p.S774S	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	860					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCACCTTCCCGGAGAGACCCG	0.617000													9	49					0	0	0.000442599	0	0
TREML2	79865	broad.mit.edu	37	6	41165871	41165871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:41165871C>T	ENST00000483722.1	-	2	537	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	118	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTGGAAGCCCATCAAGGGG	0.597000													4	18					0	0	3.59834e-05	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626826	140626826	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140626826C>T	ENST00000231173.3	+	1	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		560	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F560F(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.721000													6	46					0	0	0.000157383	0	0
RNASE3	6037	broad.mit.edu	37	14	21360228	21360228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:21360228G>A	ENST00000304639.3	+	2	441	c.383G>A	c.(382-384)aGa>aAa	p.R128K		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	128					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473000													12	48					0	0	0.000978159	0	0
ANO8	57719	broad.mit.edu	37	19	17434401	17434401	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17434401G>A	ENST00000159087.4	-	18	3782	c.3624C>T	c.(3622-3624)ccC>ccT	p.P1208P		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1208	Pro-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						gggtctcgaggggatccgagg	0.736000													4	8					0	0	0.00024832	0	0
A1CF	29974	broad.mit.edu	37	10	52619618	52619618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52619618C>T	ENST00000282641.2	-	3	270	c.83G>A	c.(82-84)gGa>gAa	p.G28E	A1CF_ENST00000373993.1_Missense_Mutation_p.G28E|A1CF_ENST00000374001.1_Missense_Mutation_p.G28E|A1CF_ENST00000373997.3_Missense_Mutation_p.G28E|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.G28E	NM_138932.2	NP_620310.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	28					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAGCTATATCCTGTGCGCTG	0.498000													5	23					0	0	8.12818e-05	0	0
CD248	57124	broad.mit.edu	37	11	66083678	66083678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:66083678G>A	ENST00000311330.3	-	1	837	c.821C>T	c.(820-822)cCc>cTc	p.P274L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	274						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGGGCACAGGGGTCCTCGCA	0.672000													5	20					0	0	0.000602214	0	0
IGHG1	3500	broad.mit.edu	37	14	106208520	106208520	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:106208520G>A	ENST00000390548.2	-	0	379																											GGGTTTTGGGGGGAAGAGGAA	0.617000													11	61					0	0	0.000308642	0	0
C2orf71	388939	broad.mit.edu	37	2	29296040	29296040	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:29296040T>C	ENST00000331664.5	-	1	1087	c.1088A>G	c.(1087-1089)gAc>gGc	p.D363G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	363					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCCAGCTTGTCCACCGACTG	0.612000													8	42					0	0	0.000274275	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377164	125377164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125377164C>T	ENST00000297913.2	+	1	217	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CACACTGATTCTCTCTGCTCC	0.498000													16	75					0	0	0.000132079	0	0
HMGCR	3156	broad.mit.edu	37	5	74641438	74641438	+	Silent	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:74641438C>A	ENST00000287936.4	+	5	561	c.405C>A	c.(403-405)tcC>tcA	p.S135S	HMGCR_ENST00000511206.1_Silent_p.S135S|HMGCR_ENST00000343975.5_Silent_p.S135S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	135					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTGACCTTTCCAGAGCAAGCA	0.318000													9	478					0.000308642	0.00269136	0.000308642	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27834654	27834654	+	Silent	SNP	G	G	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:27834654G>C	ENST00000331442.3	-	1	705	c.654C>G	c.(652-654)gcC>gcG	p.A218A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	218				Missing (in Ref. 5; AA sequence).	nucleosome assembly	nucleosome|nucleus	DNA binding	p.A218A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCGCCTTCTTGGCCTTTGCAG	0.527000													7	32					0	0	8.12818e-05	0	0
OR5J2	282775	broad.mit.edu	37	11	55944456	55944456	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55944456C>T	ENST00000312298.1	+	1	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGCCTATGACCGCTATGTGG	0.453000													13	59					0	0	0.000151284	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142232067	142232067	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142232067G>A	ENST00000390364.3	-	0	23																											CCTGCTGTGGGCAGACTGAAG	0.567000													5	15					0	0	3.59834e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87614358	87614358	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:87614358G>A	ENST00000327946.7	-	8	1213	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	376						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCCAGTGAGGCCAGTGATGT	0.493000										Multiple Myeloma(13;0.14)			7	34					0	0	8.12818e-05	0	0
LRRC43	254050	broad.mit.edu	37	12	122684825	122684825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:122684825C>T	ENST00000339777.4	+	8	1467	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	LRRC43_ENST00000425921.1_Missense_Mutation_p.P295L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	480										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GACCTGGTCCCACTGAAGGCC	0.642000													10	52					0	0	0.000978159	0	0
GRIA1	2890	broad.mit.edu	37	5	153190682	153190682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:153190682G>A	ENST00000285900.5	+	16	2961	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRIA1_ENST00000521843.2_Missense_Mutation_p.G804E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G873E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G793E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G883E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G883E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	873					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCGGCAGTGGAGAGAATGGT	0.582000													4	17					0	0	0.000602214	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:76372307C>T	ENST00000407242.2	-	3	572	c.330G>A	c.(328-330)gcG>gcA	p.A110A	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.A110A|LRRC32_ENST00000404995.1_Silent_p.A110A|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	110						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGGCCATCGCCAGCCGGT	0.672000													8	34					0	0	0.000157383	0	0
UNC45B	146862	broad.mit.edu	37	17	33495231	33495231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:33495231G>A	ENST00000268876.5	+	10	1400	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	UNC45B_ENST00000591048.1_Missense_Mutation_p.E435K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E435K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E435K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E435K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	435					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCAGAGCGCGAGACGGACCA	0.597000													6	27					0	0	3.59834e-05	0	0
OR10A4	283297	broad.mit.edu	37	11	6898777	6898777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6898777C>T	ENST00000379829.2	+	1	922	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAAGTGAAGGCTGCACTGAAG	0.468000													10	66					0	0	0.00010058	0	0
PEX13	5194	broad.mit.edu	37	2	61275798	61275798	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:61275798T>G	ENST00000295030.4	+	4	1143	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	369					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GGTTGCTGATTCTTTGGATGA	0.403000													14	56					0	0	0.000422831	0	0
PGK2	5232	broad.mit.edu	37	6	49754123	49754123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:49754123C>T	ENST00000304801.3	-	1	930	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	260					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403000													6	40					0	0	3.59834e-05	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219162	65219162	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:65219162C>T	ENST00000380230.3	+	6	563	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ANKDD1A_ENST00000496660.1_Silent_p.L87L|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Silent_p.L178L|ANKDD1A_ENST00000395723.1_Silent_p.L87L|ANKDD1A_ENST00000357698.3_Silent_p.L178L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	178					signal transduction			p.L178L(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGGACTTCCTCGTGGGCTCTG	0.612000													13	104					0	0	0.00010058	0	0
BRD1	23774	broad.mit.edu	37	22	50192222	50192222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:50192222G>A	ENST00000216267.8	-	4	2255	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	BRD1_ENST00000404034.1_Missense_Mutation_p.P590L|BRD1_ENST00000542442.1_Splice_Site_p.P283_splice|BRD1_ENST00000404760.1_Missense_Mutation_p.P590L|BRD1_ENST00000342989.5_Missense_Mutation_p.P185L|BRD1_ENST00000457780.2_Missense_Mutation_p.P590L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	590	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGACTCACGGGCTGCGCAAA	0.622000													11	21					0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13830721	13830721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13830721C>T	ENST00000265104.4	-	36	6150	c.6046G>A	c.(6046-6048)Gga>Aga	p.G2016R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2016	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAATCCGTCCAAGTCCTCGG	0.408000									Kartagener syndrome				6	43					0	0	3.59834e-05	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499519	39499519	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:39499519G>A	ENST00000263881.3	-	26	2202	c.1878C>T	c.(1876-1878)tcC>tcT	p.S626S	MAP4K3_ENST00000536018.1_Silent_p.S179S|MAP4K3_ENST00000341681.5_Silent_p.S605S|MAP4K3_ENST00000437545.1_Silent_p.S542S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	626	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTAAATTATGGGAATAAAGCT	0.318000													21	65					0	0	0.000175454	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:107459497C>T	ENST00000409382.3	-	2	1547	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E313K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E313K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000													5	14					0	0	3.59834e-05	0	0
KCNH2	3757	broad.mit.edu	37	7	150647323	150647323	+	Silent	SNP	G	G	A	rs41307292		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150647323G>A	ENST00000392968.2	-	7	3163	c.2043C>T	c.(2041-2043)acC>acT	p.T681T	KCNH2_ENST00000330883.4_Silent_p.T437T|KCNH2_ENST00000430723.3_Silent_p.T777T|KCNH2_ENST00000262186.5_Silent_p.T777T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	777					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTACAGGGCGGTGAGCAGGT	0.662000													8	62					0	0	0.000157383	0	0
SMARCA4	6597	broad.mit.edu	37	19	11113773	11113773	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11113773C>T	ENST00000358026.2	+	12	2165	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	SMARCA4_ENST00000590574.1_Silent_p.I627I|SMARCA4_ENST00000429416.3_Silent_p.I627I|SMARCA4_ENST00000589677.1_Silent_p.I627I|SMARCA4_ENST00000444061.3_Silent_p.I627I|SMARCA4_ENST00000541122.2_Silent_p.I627I|SMARCA4_ENST00000450717.3_Silent_p.I627I|SMARCA4_ENST00000413806.3_Silent_p.I627I|SMARCA4_ENST00000344626.4_Silent_p.I627I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	627					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTGGGAAGATCCTCACAGGCA	0.597000			"""F, N, Mis"""		NSCLC								11	46					0	0	0.00010058	0	0
EDC4	23644	broad.mit.edu	37	16	67914622	67914622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:67914622C>T	ENST00000358933.5	+	18	2499	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	754					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.R754C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCCCTGTCCCGTGGTTTTGG	0.647000													17	126					0	0	0.000132079	0	0
OSMR	9180	broad.mit.edu	37	5	38881759	38881759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:38881759C>T	ENST00000274276.3	+	4	713	c.311C>T	c.(310-312)cCt>cTt	p.P104L	OSMR_ENST00000502536.1_Missense_Mutation_p.P104L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	104					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TCTGAGCTCCCTTTGGAATGT	0.468000													6	59					0	0	3.59834e-05	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585530	43585530	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:43585530G>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GCTGTCCCTGGGATAAGAATA	0.517000													6	28					0	0	8.12818e-05	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488702	150488702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150488702C>T	ENST00000447204.2	-	7	1102	c.730G>A	c.(730-732)Gga>Aga	p.G244R	TMEM176B_ENST00000450753.2_Missense_Mutation_p.G207R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G244R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.G244R|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G244R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G244R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	244					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCTGATCCTTCCTCATTC	0.488000													5	39					0	0	0.000602214	0	0
TLL2	7093	broad.mit.edu	37	10	98154991	98154991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:98154991G>A	ENST00000357947.3	-	13	1904	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	560	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAGCCATCGGACACAAACTT	0.473000													24	85					0	0	0.000720815	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802950	159802950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:159802950G>A	ENST00000289707.5	+	3	801	c.652G>A	c.(652-654)Gat>Aat	p.D218N	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.D109N	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	218						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CACGCCCTGGGATAGCTGTCA	0.557000													12	47					0	0	0.000978159	0	0
ZFP64	55734	broad.mit.edu	37	20	50769848	50769848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:50769848G>A	ENST00000216923.4	-	6	1232	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	ZFP64_ENST00000371515.4_Missense_Mutation_p.R293C|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.R241C|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGGTGCAGCGGACATTGCAG	0.537000													10	30					0	0	0.000978159	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991017	39991017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:39991017G>A	ENST00000332312.3	-	4	1384	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	398						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCCCTCTCAAGGCCATCCATA	0.667000													15	32					0	0	0.000219431	0	0
OR2A14	135941	broad.mit.edu	37	7	143826480	143826480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:143826480C>T	ENST00000408899.2	+	1	330	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGCACCATCTCCTTTTTTCCA	0.438000													28	182					0	0	0.000279167	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231724	29231724	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:29231724G>A	ENST00000441381.1	+	0	195																											AATGGCAGCAGGATAAGGACC	0.423000													6	73					0	0	3.59834e-05	0	0
ZNF239	8187	broad.mit.edu	37	10	44052942	44052942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:44052942G>A	ENST00000306006.6	-	2	1238	c.586C>T	c.(586-588)Cca>Tca	p.P196S	ZNF239_ENST00000426961.1_Missense_Mutation_p.P196S|ZNF239_ENST00000374446.2_Missense_Mutation_p.P196S|ZNF239_ENST00000535642.1_Missense_Mutation_p.P196S	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCTCATATGGATGACCATCT	0.438000													13	35					0	0	0.000151284	0	0
UNC13A	23025	broad.mit.edu	37	19	17752275	17752275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17752275C>T	ENST00000428389.2	-	22	2826	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	UNC13A_ENST00000552293.1_Missense_Mutation_p.D855N|UNC13A_ENST00000550896.1_Missense_Mutation_p.D853N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D855N|UNC13A_ENST00000519716.2_Missense_Mutation_p.D855N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D855N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	855					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.D943N(1)|p.D855N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGTCTCATCGTAGTAAACC	0.562000													5	28					0	0	3.59834e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174927	207174927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:207174927C>T	ENST00000374423.3	+	5	6061	c.5675C>T	c.(5674-5676)gCt>gTt	p.A1892V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1892							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCAACTCAAGCTGTGTCAGAG	0.443000													8	27					0	0	0.000274275	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55281317	55281317	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55281317C>T	ENST00000336077.6	+	1	55	c.15C>T	c.(13-15)gtC>gtT	p.V5V	KIR2DL1_ENST00000291633.7_Silent_p.V5V|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	5			V -> F (in dbSNP:rs2304224).		immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCTTGGTCGTCAGCATGG	0.602000											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	58					0	0	0.000157383	0	0
OR7C2	26658	broad.mit.edu	37	19	15052941	15052941	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:15052941T>A	ENST00000248072.3	+	1	641	c.641T>A	c.(640-642)aTc>aAc	p.I214N		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTCTGTGGAATCCTATTCTCT	0.478000													10	57					0	0	0.000673444	0	0
TNXB	7148	broad.mit.edu	37	6	32065690	32065690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32065690G>A	ENST00000375244.3	-	2	487	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	TNXB_ENST00000479795.1_Missense_Mutation_p.L96F|TNXB_ENST00000375247.2_Missense_Mutation_p.L96F			P22105	TENX_HUMAN	tenascin XB	96					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGAAGCAAGGACTGGGGGC	0.612000													26	196					0	0	0.000720815	0	0
GABRB2	2561	broad.mit.edu	37	5	160757949	160757949	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:160757949T>A	ENST00000274547.2	-	9	1235	c.1018A>T	c.(1018-1020)Aaa>Taa	p.K340*	GABRB2_ENST00000520240.1_Nonsense_Mutation_p.K340*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.K340*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.K180*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.K277*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.K340*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	340					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAGCTGCTTTCTTTTGGCGT	0.498000													12	84					0	0	0.000978159	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:185800571G>A	ENST00000302277.6	+	4	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	150						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTAATGAAATTTCCCA	0.373000													5	42					0	0	3.59834e-05	0	0
FCRL5	83416	broad.mit.edu	37	1	157504474	157504474	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157504474C>T	ENST00000361835.3	-	8	1768	c.1611G>A	c.(1609-1611)ggG>ggA	p.G537G	FCRL5_ENST00000368189.3_Silent_p.G537G|FCRL5_ENST00000356953.4_Silent_p.G537G|FCRL5_ENST00000368190.3_Silent_p.G537G|FCRL5_ENST00000368191.3_Silent_p.G452G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	537	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAGTAATTCCCTGAATGTC	0.512000													8	21					0	0	0.000274275	0	0
P2RY6	5031	broad.mit.edu	37	11	73007862	73007862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:73007862G>A	ENST00000393590.2	+	2	598	c.299G>A	c.(298-300)cGc>cAc	p.R100H	P2RY6_ENST00000393591.1_Missense_Mutation_p.R100H|P2RY6_ENST00000393592.2_Missense_Mutation_p.R100H|P2RY6_ENST00000349767.2_Missense_Mutation_p.R100H|P2RY6_ENST00000538328.1_Missense_Mutation_p.R100H|P2RY6_ENST00000540342.1_Missense_Mutation_p.R100H|P2RY6_ENST00000542092.1_Missense_Mutation_p.R100H|P2RY6_ENST00000540124.1_Missense_Mutation_p.R100H	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R100H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TTCGCCTGCCGCCTGGTCCGC	0.607000													13	67					0	0	0.00010058	0	0
CDH2	1000	broad.mit.edu	37	18	25572697	25572697	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:25572697G>A	ENST00000269141.3	-	9	1689	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	CDH2_ENST00000399380.3_Silent_p.I391I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	422	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCCGCCACTGATTCTGTACA	0.522000													5	43					0	0	0.000602214	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:20563565C>T	ENST00000329697.6	-	6	963	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W186*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W265*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W265*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000													17	75					0	0	0.000132079	0	0
SPTBN4	57731	broad.mit.edu	37	19	41077962	41077962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:41077962G>A	ENST00000352632.3	+	34	7443	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1196K|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2453K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2453	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGTAAGGGGGAACTGGGCTT	0.597000													46	194					0	0	0.000781405	0	0
DPYD	1806	broad.mit.edu	37	1	97547999	97547999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:97547999G>A	ENST00000370192.3	-	22	2894	c.2794C>T	c.(2794-2796)Ctt>Ttt	p.L932F		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	932					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AATGTTCCAAGGTACTGCAGT	0.348000													11	67					0	0	0.000151284	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731010	45731010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:45731010C>T	ENST00000413988.1	-	5	354	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R105Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	105										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTCATGGAATCGCTCCACACG	0.622000													9	25					0	0	0.00010058	0	0
DOPEY2	9980	broad.mit.edu	37	21	37591781	37591781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:37591781C>A	ENST00000399151.3	+	10	1326	c.1241C>A	c.(1240-1242)tCg>tAg	p.S414*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	414					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTGGAAATTCGCTGATAAGG	0.438000													8	46					3.09899e-07	2.73539e-06	0.000274275	1	0
OR51E2	81285	broad.mit.edu	37	11	4703459	4703459	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4703459C>T	ENST00000396950.3	-	2	722	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCGCTTGATCAGCAGAGGCA	0.537000													8	34					0	0	0.000274275	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)			21	36					0	0	0.000229342	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271893	43271893	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:43271893C>T	ENST00000372585.5	+	10	1598	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	SLC22A7_ENST00000372574.3_Silent_p.I499I|SLC22A7_ENST00000372589.3_Silent_p.I499I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	501						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.I501I(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATGGGGGGATCGCCCTGCTGG	0.652000													10	67					0	0	0.000442599	0	0
PCSK5	5125	broad.mit.edu	37	9	78794523	78794523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:78794523C>T	ENST00000545128.1	+	15	2450	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	PCSK5_ENST00000376752.4_Missense_Mutation_p.P638S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	638	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCCCTGCGACCCTGAGTGCAG	0.423000													4	32					0	0	0.000602214	0	0
CCDC60	160777	broad.mit.edu	37	12	119909919	119909919	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:119909919C>T	ENST00000327554.2	+	3	756	c.291C>T	c.(289-291)ttC>ttT	p.F97F	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	97										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAAATAAATTCCAGCCAGCCG	0.428000													22	111					0	0	0.000375601	0	0
SERPINB10	5273	broad.mit.edu	37	18	61584738	61584738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:61584738G>A	ENST00000238508.3	+	3	276	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAG	0.284000													3	6					0	0	0.000602214	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188299	70188299	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:70188299G>A	ENST00000320256.4	-	1	1098	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	174					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAGCCCCAGGGACCCCAAAGG	0.592000													9	23					0	0	0.000442599	0	0
CC2D1A	54862	broad.mit.edu	37	19	14031571	14031571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:14031571C>T	ENST00000318003.7	+	14	1718	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	CC2D1A_ENST00000589606.1_Nonsense_Mutation_p.Q493*	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	493					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCCCAGCAGCAGCTGGCCTT	0.647000													7	11					0	0	8.12818e-05	0	0
HCCS	3052	broad.mit.edu	37	X	11133033	11133033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:11133033C>T	ENST00000321143.4	+	3	381	c.179C>T	c.(178-180)gCc>gTc	p.A60V	HCCS_ENST00000380763.3_Missense_Mutation_p.A60V|HCCS_ENST00000380762.4_Missense_Mutation_p.A60V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	60					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CAGGAACGCGCCTATGAGTAC	0.468000													10	26					0	0	0.000978159	0	0
COLQ	8292	broad.mit.edu	37	3	15507869	15507869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:15507869G>A	ENST00000383788.5	-	12	918	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.P265S|COLQ_ENST00000383786.5_Missense_Mutation_p.P231S|COLQ_ENST00000383787.2_Missense_Mutation_p.P256S|COLQ_ENST00000383781.4_Missense_Mutation_p.P255S|COLQ_ENST00000435459.2_Missense_Mutation_p.P255S	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	265	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGGCCTGGGGGCCCCGGACGG	0.617000													7	34					0	0	0.000157383	0	0
OR4A47	403253	broad.mit.edu	37	11	48510633	48510633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:48510633G>A	ENST00000446524.1	+	1	365	c.289G>A	c.(289-291)Gcc>Acc	p.A97T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCTTGCATGGCCCAGCTCTT	0.423000													5	42					0	0	3.59834e-05	0	0
KIF5A	3798	broad.mit.edu	37	12	57960968	57960968	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:57960968G>A	ENST00000455537.2	+	7	835	c.561G>A	c.(559-561)ggG>ggA	p.G187G	KIF5A_ENST00000286452.5_Silent_p.G98G	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	187	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTGATGAAGGGAAATCAAATC	0.507000													10	65					0	0	0.000978159	0	0
ZNF746	155061	broad.mit.edu	37	7	149171709	149171709	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:149171709G>A	ENST00000340622.3	-	7	1981	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF746_ENST00000458143.2_Silent_p.T568T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	567					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGACGGTGCAGGTGAAGGGCC	0.672000													4	27					0	0	0.000602214	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513287	106513287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:106513287G>A	ENST00000359195.3	+	4	2501	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D731N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D731N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	731					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATGCTGCACGACTTTACCCA	0.473000													9	85					0	0	0.000442599	0	0
KLHL14	57565	broad.mit.edu	37	18	30260436	30260436	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:30260436G>A	ENST00000359358.4	-	6	1803	c.1365C>T	c.(1363-1365)tcC>tcT	p.S455S		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	455						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGGCAAAGAGGACACATAGC	0.458000													5	49					0	0	3.59834e-05	0	0
MAT1A	4143	broad.mit.edu	37	10	82036311	82036311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:82036311G>A	ENST00000372213.3	-	6	849	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	197					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ATGCGCACAGGGATGACTGCG	0.577000													9	49					0	0	0.000673444	0	0
FUT9	10690	broad.mit.edu	37	6	96651759	96651759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:96651759C>T	ENST00000302103.5	+	3	1054	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTTATCTTTCCTTTGAAAAT	0.368000													3	6					0	0	6.4e-05	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958248	57958248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:57958248C>T	ENST00000311591.3	+	1	343	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTCCCAGGCTCGCTGTGCAGC	0.592000													12	64					0	0	0.000219431	0	0
ESYT3	83850	broad.mit.edu	37	3	138170899	138170899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:138170899C>T	ENST00000389567.4	+	2	523	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	ESYT3_ENST00000289135.4_Missense_Mutation_p.P113S	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	113						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GATCCACTTCCCGGACGTGGA	0.667000													24	93					0	0	0.000279167	0	0
LILRB4	11006	broad.mit.edu	37	19	55175422	55175422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55175422G>A	ENST00000391736.1	+	5	596	c.281G>A	c.(280-282)gGg>gAg	p.G94E	LILRB4_ENST00000391733.3_Missense_Mutation_p.G94E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G94E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G94E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G94E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	94	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACTATGCAGGGAGATACCGC	0.577000													18	53					0	0	0.00074312	0	0
OR5B12	390191	broad.mit.edu	37	11	58207622	58207622	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58207622C>T	ENST00000302572.2	-	1	24	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTTGTTCTCCATTGGGAATT	0.428000													11	32					0	0	0.000673444	0	0
SPRY2	10253	broad.mit.edu	37	13	80911527	80911527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:80911527G>A	ENST00000377102.1	-	2	1291	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SPRY2_ENST00000377104.3_Missense_Mutation_p.A105V|SPRY2_ENST00000540649.1_Missense_Mutation_p.A105V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	105					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGACAGAGGGGCTCGTGCAGA	0.602000													11	56					0	0	0.000151284	0	0
FCRL5	83416	broad.mit.edu	37	1	157514175	157514175	+	Missense_Mutation	SNP	G	G	A	rs138414681		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157514175G>A	ENST00000361835.3	-	5	878	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	FCRL5_ENST00000368189.3_Missense_Mutation_p.L241F|FCRL5_ENST00000356953.4_Missense_Mutation_p.L241F|FCRL5_ENST00000368190.3_Missense_Mutation_p.L241F|FCRL5_ENST00000368191.3_Missense_Mutation_p.L156F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	241	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCGGGGAGAGACTCCAGCCT	0.532000													19	84					0	0	0.000132079	0	0
MUSK	4593	broad.mit.edu	37	9	113509934	113509934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113509934C>T	ENST00000416899.2	+	7	893	c.767C>T	c.(766-768)tCc>tTc	p.S256F	MUSK_ENST00000374448.4_Missense_Mutation_p.S256F|MUSK_ENST00000189978.5_Missense_Mutation_p.S256F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	256	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTCTGGGTCCATTCAAGAG	0.413000													8	42					0	0	0.000274275	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440442	103440442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:103440442G>A	ENST00000361246.2	-	12	1840	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	518					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGCTCTTGGCGAAGCGCCACT	0.557000													8	31					0	0	0.000157383	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:37267467G>A	ENST00000373091.3	-	16	2761	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000													9	25					0	0	0.000673444	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:101834543G>A	ENST00000506729.1	-	1	177	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_ENST00000389019.3_Silent_p.F2F|SLCO6A1_ENST00000379810.1_Silent_p.F2F|SLCO6A1_ENST00000513675.1_Silent_p.F2F|SLCO6A1_ENST00000379807.3_Silent_p.F2F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	2						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGACGCCTACGAACATGGCTC	0.711000													11	81					0	0	0.00010058	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737326	62737326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:62737326C>T	ENST00000369768.1	-	1	1198	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	287						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGGGGCAGGTCCGTGGTCAGG	0.637000													10	29					0	0	0.000673444	0	0
KMT2B	9757	broad.mit.edu	37	19	36218841	36218841	+	Silent	SNP	C	C	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36218841C>G	ENST00000420124.1	+	18	4452	c.4452C>G	c.(4450-4452)acC>acG	p.T1484T	WBP7_ENST00000222270.7_Silent_p.T1484T|KMT2B_ENST00000607650.1_RNA																							AGGGAGAGACCCCGGACCGCC	0.632000													3	16					0	0	6.4e-05	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:30647097C>T	ENST00000274853.3	-	2	3557	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	PPP1R18_ENST00000399199.3_Missense_Mutation_p.E561K|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	561						cytoplasm|cytoskeleton	actin binding										CCCAGCTCCTCCAGTACCGAA	0.627000													8	32					0	0	0.000442599	0	0
FCRL5	83416	broad.mit.edu	37	1	157494336	157494336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157494336G>A	ENST00000361835.3	-	10	2129	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	FCRL5_ENST00000356953.4_Missense_Mutation_p.R658C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R658C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R573C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	658						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATGGGACGAGATACTGGA	0.502000													11	30					0	0	0.00010058	0	0
ACTN1	87	broad.mit.edu	37	14	69371394	69371394	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:69371394G>A	ENST00000193403.6	-	7	1037	c.654C>T	c.(652-654)atC>atT	p.I218I	ACTN1_ENST00000538545.2_Silent_p.I218I|ACTN1_ENST00000438964.2_Silent_p.I218I|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Silent_p.I218I|ACTN1_ENST00000376839.3_Silent_p.I153I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	218	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCATCTTGGGGATGTCCAGGT	0.542000													8	40					0	0	0.00010058	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332748	71332748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:71332748C>T	ENST00000242462.4	-	2	81	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	18					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AAGGACCGCTCCGTCTCACGG	0.672000													13	51					0	0	0.000151284	0	0
COL1A1	1277	broad.mit.edu	37	17	48268826	48268826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:48268826G>A	ENST00000225964.5	-	32	2271	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	718	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGCTACCGGGAGCTCCAGG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	41					0	0	0.000442599	0	0
ACVR1	90	broad.mit.edu	37	2	158637084	158637084	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:158637084G>A	ENST00000263640.3	-	4	525	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ACVR1_ENST00000410057.2_Silent_p.L32L|ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000434821.1_Silent_p.L32L|ACVR1_ENST00000409283.2_Silent_p.L32L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	32					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CACACATGTAGAGTTTGGGGT	0.468000													6	31					0	0	8.12818e-05	0	0
MKL2	57496	broad.mit.edu	37	16	14306221	14306221	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:14306221C>T	ENST00000571589.1	+	5	403	c.231C>T	c.(229-231)agC>agT	p.S77S	MKL2_ENST00000572567.1_Silent_p.S66S|MKL2_ENST00000573051.1_Silent_p.S26S|MKL2_ENST00000574045.1_Silent_p.S77S|MKL2_ENST00000318282.5_Silent_p.S77S|MKL2_ENST00000341243.5_Silent_p.S66S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	66					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTTGAAGAGCCCAGCGGCAT	0.378000													6	35					0	0	0.000157383	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789249	67789249	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:67789249C>T	ENST00000539229.1	+	8	971	c.855C>T	c.(853-855)atC>atT	p.I285I	ALDH3B1_ENST00000007633.8_Silent_p.I285I|ALDH3B1_ENST00000342456.6_Silent_p.I249I|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	286					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GCCGCATCATCAACCAGAAAC	0.637000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	0.000295444	0	0
SDK2	54549	broad.mit.edu	37	17	71418541	71418541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:71418541C>T	ENST00000392650.3	-	15	1930	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	SDK2_ENST00000388726.3_Missense_Mutation_p.D644N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	644	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTTTGGGGTCCACACTGGCC	0.577000													9	56					0	0	0.000978159	0	0
FAM13C	220965	broad.mit.edu	37	10	61062601	61062601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61062601G>A	ENST00000373867.3	-	6	683	c.218C>T	c.(217-219)tCg>tTg	p.S73L	FAM13C_ENST00000419214.2_Missense_Mutation_p.S156L|FAM13C_ENST00000442566.3_Missense_Mutation_p.S156L|FAM13C_ENST00000435852.2_Missense_Mutation_p.S156L|FAM13C_ENST00000468840.2_Missense_Mutation_p.S73L|FAM13C_ENST00000373868.2_Missense_Mutation_p.S156L|FAM13C_ENST00000277705.6_Missense_Mutation_p.S156L|FAM13C_ENST00000422313.2_Missense_Mutation_p.S156L|FAM13C_ENST00000510215.2_5'UTR	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTTTGGCGAAATGGCAGT	0.353000													10	102					0	0	0.00010058	0	0
SH2D7	646892	broad.mit.edu	37	15	78390920	78390920	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:78390920C>T	ENST00000328828.5	+	4	627	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SH2D7_ENST00000409568.2_Silent_p.S73S	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	209										endometrium(2)|kidney(2)|lung(3)	7						GGAACCTCTCCCAGGAGGAAA	0.617000													3	7					0	0	6.4e-05	0	0
STAU1	6780	broad.mit.edu	37	20	47782547	47782547	+	Silent	SNP	G	G	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:47782547G>T	ENST00000371856.2	-	3	602	c.192C>A	c.(190-192)acC>acA	p.T64T	STAU1_ENST00000371792.1_Intron|STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000340954.7_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000360426.4_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	64						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CAGCTGCACTGGTGGATGTAA	0.418000													7	170					0.000442599	0.00383804	0.000442599	1	0
EMILIN3	90187	broad.mit.edu	37	20	39991018	39991018	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:39991018G>A	ENST00000332312.3	-	4	1383	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	397						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCTCTCAAGGCCATCCATAC	0.662000													14	29					0	0	0.000151284	0	0
NEB	4703	broad.mit.edu	37	2	152506845	152506845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152506845G>A	ENST00000427231.2	-	54	7478	c.7276C>T	c.(7276-7278)Ccc>Tcc	p.P2426S	NEB_ENST00000397345.3_Missense_Mutation_p.P2426S|NEB_ENST00000409198.1_Missense_Mutation_p.P2426S|NEB_ENST00000172853.10_Missense_Mutation_p.P2426S|NEB_ENST00000604864.1_Missense_Mutation_p.P2426S|NEB_ENST00000603639.1_Missense_Mutation_p.P2426S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2426					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAACCCAAGGGACTCCATCCT	0.458000													7	42					0	0	0.000157383	0	0
ADAM22	53616	broad.mit.edu	37	7	87785277	87785277	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:87785277C>T	ENST00000398204.4	+	22	2186	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	ADAM22_ENST00000398201.4_Silent_p.I621I|ADAM22_ENST00000265727.7_Silent_p.I621I|ADAM22_ENST00000315984.7_Silent_p.I621I|ADAM22_ENST00000398209.3_Silent_p.I621I	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	621	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGTGAAATCACATCTACTT	0.378000													20	33					0	0	0.000175454	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162516	33162516	+	RNA	SNP	G	G	A	rs11537867		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:33162516G>A	ENST00000510327.1	-	0	346																											GTAAAACAAGGATCATCGATG	0.502000													5	21					0	0	0.000602214	0	0
RORB	6096	broad.mit.edu	37	9	77257711	77257711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:77257711G>A	ENST00000376896.2	+	4	1229	c.617G>A	c.(616-618)gGg>gAg	p.G206E	RORB_ENST00000396204.2_Missense_Mutation_p.G217E	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	217	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTAGCACCAGGGATAACCATG	0.398000													9	57					0	0	0.00010058	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215568	140215568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140215568C>T	ENST00000525929.1	+	1	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q534*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCAGTTCCAGGTGAGCGC	0.682000													27	105					0	0	0.00106085	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310136	178310136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:178310136C>T	ENST00000322434.3	+	5	909	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAATTCATCCCTTCGTAAA	0.313000													26	135					0	0	0.000184323	0	0
DIDO1	11083	broad.mit.edu	37	20	61511132	61511132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:61511132G>A	ENST00000266070.4	-	16	6501	c.6176C>T	c.(6175-6177)cCc>cTc	p.P2059L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2059L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2059					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCGGCCTCGGGGCCCTGTCC	0.687000													20	107					0	0	0.000229342	0	0
NPAP1	23742	broad.mit.edu	37	15	24924364	24924364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24924364C>T	ENST00000329468.2	+	1	3824	c.3350C>T	c.(3349-3351)cCt>cTt	p.P1117L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTTGTGTTCCTGCTTTTCAA	0.488000													16	51					0	0	0.000566183	0	0
DSG3	1830	broad.mit.edu	37	18	29046573	29046573	+	Missense_Mutation	SNP	G	G	A	rs145720587	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:29046573G>A	ENST00000257189.4	+	11	1575	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	498	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGTCCTCGAAAAAGATGC	0.418000													12	87					0	0	0.000151284	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024427	147024427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:147024427C>T	ENST00000265272.5	-	6	1536	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E315K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E357K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATTTTCCTTGGTAACG	0.408000													17	43					0	0	0.000175454	0	0
C1orf173	127254	broad.mit.edu	37	1	75038351	75038351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75038351C>T	ENST00000326665.5	-	14	3261	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1015	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGGCTTCCTTCCTCAGGGCTG	0.512000													12	53					0	0	0.00010058	0	0
OR7G1	125962	broad.mit.edu	37	19	9226251	9226251	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9226251G>A	ENST00000293614.1	-	1	188	c.189C>T	c.(187-189)ctC>ctT	p.L63L	OR7G1_ENST00000541538.1_Silent_p.L63L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGAGATTAAAGAGAAGGAAGT	0.483000													14	93					0	0	0.000151284	0	0
C6orf118	168090	broad.mit.edu	37	6	165715346	165715346	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:165715346C>T	ENST00000543069.1	-	2	734	c.153G>A	c.(151-153)ggG>ggA	p.G51G	C6orf118_ENST00000230301.8_Silent_p.G155G			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	155										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTTCCTTCCCCTCTCTGA	0.612000													10	40					0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13766189	13766189	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13766189T>A	ENST00000265104.4	-	59	10101	c.9997A>T	c.(9997-9999)Aaa>Taa	p.K3333*	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3333	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCACTGACTTTCCTTTGAAAC	0.502000									Kartagener syndrome				12	82					0	0	0.000422831	0	0
MUC17	140453	broad.mit.edu	37	7	100687042	100687042	+	Silent	SNP	G	G	A	rs140217158		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100687042G>A	ENST00000306151.4	+	3	12409	c.12345G>A	c.(12343-12345)acG>acA	p.T4115T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T4115T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCCCCACGAATACTACAA	0.478000													16	27					0	0	0.000958276	0	0
MYH4	4622	broad.mit.edu	37	17	10364338	10364338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10364338C>T	ENST00000255381.2	-	12	1152	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	348	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCACCTTTTCATCAGCAGTG	0.488000													8	58					0	0	0.000673444	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:55147023G>A	ENST00000370862.3	+	7	1442	c.1105_splice	c.e7-1	p.G369_splice		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000													4	19					0	0	0.00024832	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745652	30745652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:30745652C>T	ENST00000217315.5	+	14	1674	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	TM9SF4_ENST00000398022.2_Missense_Mutation_p.P462L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	462						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCTCCCTGCCCCTCGTCTAC	0.622000													13	90					0	0	0.000219431	0	0
SMO	6608	broad.mit.edu	37	7	128846357	128846357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:128846357G>A	ENST00000249373.3	+	6	1473	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	398					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAACTACCGATACCGTGCG	0.602000			Mis		skin basal cell								16	104					0	0	0.000422831	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793416	65793416	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:65793416C>T	ENST00000312106.5	-	1	572	c.435G>A	c.(433-435)agG>agA	p.R145R		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	145	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGAGACCCCCTATGGTAAT	0.557000													7	35					0	0	8.12818e-05	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													19	64					0	0	0.000229342	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335162	42335162	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:42335162C>T	ENST00000262418.6	-	12	1451	c.1296G>A	c.(1294-1296)cgG>cgA	p.R432R		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	432	Membrane (anion exchange).		R -> W (in ELO antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCTGGTTCCGGGTCTTTT	0.587000													11	24					0	0	0.00010058	0	0
LPCAT2	54947	broad.mit.edu	37	16	55559453	55559453	+	Missense_Mutation	SNP	C	C	T	rs143609573		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:55559453C>T	ENST00000262134.5	+	2	389	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	69					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCTTCCAATTCGTGTCTTATT	0.358000													10	40					0	0	0.000978159	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243085	57243085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:57243085C>T	ENST00000537866.1	+	4	1375	c.502C>T	c.(502-504)Cca>Tca	p.P168S	RSPRY1_ENST00000394420.4_Missense_Mutation_p.P168S			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	168						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGATGAATGTCCATTGCCCAC	0.348000													17	103					0	0	0.000958276	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499285	37499285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:37499285G>A	ENST00000381792.2	-	2	313	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S58L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.S67L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.S67L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S58L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	67					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.S67L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACCCCCGCCGAAGCCAGCAC	0.627000													21	22					0	0	0.000229342	0	0
OR7G3	390883	broad.mit.edu	37	19	9237444	9237444	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9237444G>A	ENST00000305444.2	-	1	182	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TAGAGAGGAGGAAGTACATGG	0.537000													6	39					0	0	8.12818e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55583112	55583112	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:55583112G>A	ENST00000361849.3	-	34	4774	c.4380C>T	c.(4378-4380)ttC>ttT	p.F1460F	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Silent_p.F1455F|PCDH15_ENST00000395433.1_Silent_p.F1435F|PCDH15_ENST00000437009.1_Silent_p.F1389F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.F1458F|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.F1418F|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1458					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTAGAGAAGGAAAAGACTTG	0.348000										HNSCC(58;0.16)			10	52					0	0	0.000673444	0	0
SEMG2	6407	broad.mit.edu	37	20	43850925	43850925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:43850925G>A	ENST00000372769.3	+	2	742	c.652G>A	c.(652-654)Ggg>Agg	p.G218R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	218	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAAAATAAAGGGCATTACCA	0.393000													14	70					0	0	0.000151284	0	0
OR4F6	390648	broad.mit.edu	37	15	102346078	102346078	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:102346078C>T	ENST00000328882.4	+	1	177	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGACCTCTGACCCTCGTTTAC	0.468000													75	154					0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	120980003	120980003	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:120980003C>T	ENST00000392793.1	+	4	553	c.282C>T	c.(280-282)gcC>gcT	p.A94A	TECTA_ENST00000264037.2_Silent_p.A94A			O75443	TECTA_HUMAN	tectorin alpha	94					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGGAGAGCCTTCGTCGCCC	0.493000													5	26					0	0	3.59834e-05	0	0
GIMAP4	55303	broad.mit.edu	37	7	150267085	150267085	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150267085G>A	ENST00000461940.1	+	2	179	c.96G>A	c.(94-96)caG>caA	p.Q32Q	GIMAP4_ENST00000494750.1_Intron|GIMAP4_ENST00000255945.2_Intron			Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	20							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGCTGCAGGGAGGTTAGC	0.587000													8	8					0	0	0.000442599	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125831648	125831648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:125831648G>A	ENST00000393434.2	-	19	2507	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.H720Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.H730Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.H619Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	720	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AACTCATCATGAATGGAGTCC	0.562000													5	43					0	0	8.12818e-05	0	0
OR1G1	8390	broad.mit.edu	37	17	3030680	3030680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:3030680G>A	ENST00000328890.2	-	1	195	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATGGGGGTATGGAGTTGAGTG	0.507000													9	51					0	0	0.000442599	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389505	19389505	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:19389505G>A	ENST00000338883.4	-	23	3251	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	MAP3K15_ENST00000469203.2_Silent_p.S916S|MAP3K15_ENST00000359173.3_Silent_p.S519S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1084							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTGACTGATGGACGAGCTGT	0.532000													8	37					0	0	0.000274275	0	0
FBXL2	25827	broad.mit.edu	37	3	33425589	33425589	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:33425589A>G	ENST00000484457.1	+	14	1151	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V	FBXL2_ENST00000446237.3_Missense_Mutation_p.I95V|FBXL2_ENST00000542085.1_Missense_Mutation_p.I64V|FBXL2_ENST00000538892.1_Missense_Mutation_p.I286V|FBXL2_ENST00000538181.1_Missense_Mutation_p.I270V|FBXL2_ENST00000507198.1_Missense_Mutation_p.I286V|FBXL2_ENST00000283627.6_3'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	354					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CTGCCTCCTCATCACTGATGT	0.582000													7	35					0	0	8.12818e-05	0	0
CAMKK1	84254	broad.mit.edu	37	17	3773125	3773125	+	Silent	SNP	G	G	T	rs147240137		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:3773125G>T	ENST00000381771.2	-	14	1443	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	CAMKK1_ENST00000348335.2_Silent_p.P394P|CAMKK1_ENST00000381769.2_Silent_p.P421P|CAMKK1_ENST00000158166.5_Silent_p.P432P			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	394					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TTCTCGTCTCGGGATTCTTGT	0.572000													5	44					0.000274275	0.00239391	0.000274275	1	0
KCNMB2	10242	broad.mit.edu	37	3	178543499	178543499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:178543499G>A	ENST00000432997.1	+	3	532	c.180G>A	c.(178-180)atG>atA	p.M60I	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.M60I|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M60I|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M60I	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	60					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCCATCATGATGTATTTTC	0.527000													22	97					0	0	0.000586117	0	0
SOX5	6660	broad.mit.edu	37	12	23699249	23699249	+	Splice_Site	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:23699249C>T	ENST00000546136.1	-	11	1561		c.e11+1		SOX5_ENST00000309359.1_Splice_Site|SOX5_ENST00000537393.1_Splice_Site|SOX5_ENST00000381381.2_Splice_Site|SOX5_ENST00000396007.2_Splice_Site|SOX5_ENST00000545921.1_Splice_Site|SOX5_ENST00000451604.2_Splice_Site|SOX5_ENST00000541536.1_Splice_Site			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5						transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTTCACAAACCATCAGAATC	0.373000													6	56					0	0	8.12818e-05	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445222	99445222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99445222G>A	ENST00000354829.2	+	5	533	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E144K|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E144K|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	144			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAAATTCAAGGAAGTAAGAAA	0.348000													46	86					0	0	0.000781405	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209875	140209875	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140209875G>A	ENST00000529310.1	+	1	2313	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGTGCACGGCGGACAAGC	0.687000													7	37					0	0	8.12818e-05	0	0
COL9A2	1298	broad.mit.edu	37	1	40775826	40775826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:40775826C>T	ENST00000372748.3	-	15	845	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	250	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCCTTTATATCCATGAGGGCC	0.597000													8	45					0	0	0.000442599	0	0
NEB	4703	broad.mit.edu	37	2	152373030	152373030	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152373030C>T	ENST00000427231.2	-	157	23050	c.22848G>A	c.(22846-22848)ctG>ctA	p.L7616L	NEB_ENST00000397345.3_Silent_p.L7616L|NEB_ENST00000409198.1_Silent_p.L5915L|NEB_ENST00000172853.10_Silent_p.L5915L|NEB_ENST00000604864.1_Silent_p.L7616L|NEB_ENST00000603639.1_Silent_p.L7616L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5915					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCAAAGTCCAGCATGGGTT	0.428000													3	11					0	0	3.59834e-05	0	0
CAPN12	147968	broad.mit.edu	37	19	39230713	39230713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:39230713G>A	ENST00000328867.4	-	5	1015	c.707C>T	c.(706-708)tCc>tTc	p.S236F	CAPN12_ENST00000601953.1_Missense_Mutation_p.S87F	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	236	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCACGAGGGACTCCTTGGC	0.637000													5	23					0	0	3.59834e-05	0	0
RAD21	5885	broad.mit.edu	37	8	117870611	117870611	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:117870611A>G	ENST00000297338.2	-	5	748	c.461T>C	c.(460-462)aTt>aCt	p.I154T	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	154					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTTGTAAAATACTGATGTT	0.333000													9	30					0	0	0.000673444	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823144	38823144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:38823144C>T	ENST00000303592.3	-	2	1252	c.994G>A	c.(994-996)Gac>Aac	p.D332N	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	332					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGTGAGTAGTCCACCTTGTAG	0.642000													12	20					0	0	0.00010058	0	0
MSI1	4440	broad.mit.edu	37	12	120783433	120783433	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:120783433G>A	ENST00000257552.2	-	14	1138	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	350					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAATCAAAGGGCCCTGAAAAG	0.567000													9	67					0	0	0.000219431	0	0
EPPIN	57119	broad.mit.edu	37	20	44174435	44174435	+	Silent	SNP	G	G	A	rs140203194		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:44174435G>A	ENST00000336443.3	-	1	581	c.18C>T	c.(16-18)caC>caT	p.H6H	EPPIN_ENST00000354280.4_Intron|EPPIN_ENST00000555685.1_Intron|EPPIN_ENST00000409554.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron					epididymal peptidase inhibitor																		TTTTACACCCGTGTGCCTTAG	0.483000													7	41					0	0	0.000157383	0	0
GART	2618	broad.mit.edu	37	21	34882224	34882224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:34882224G>A	ENST00000381831.3	-	18	2581	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	GART_ENST00000543717.1_Missense_Mutation_p.S325F|GART_ENST00000381815.4_Missense_Mutation_p.S773F|GART_ENST00000381839.3_Missense_Mutation_p.S773F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	773	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACACGTGGGGAACCTTCATT	0.303000													6	36					0	0	3.59834e-05	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	16					0	0	6.4e-05	0	0
AGRN	375790	broad.mit.edu	37	1	980620	980620	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:980620C>T	ENST00000379370.2	+	13	2384	c.2334C>T	c.(2332-2334)atC>atT	p.I778I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	778					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGACAATATCACCGCAGCCC	0.706000													5	17					0	0	3.59834e-05	0	0
TMEM255B	348013	broad.mit.edu	37	13	114469202	114469202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:114469202C>T	ENST00000375353.3	+	2	188	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_182614.2	NP_872420.1			transmembrane protein 255B																		GAGAATGTGACCGTTGGGGGC	0.652000													7	44					0	0	0.000157383	0	0
MYO6	4646	broad.mit.edu	37	6	76570771	76570771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76570771G>A	ENST00000369981.3	+	15	1784	c.1505G>A	c.(1504-1506)gGt>gAt	p.G502D	MYO6_ENST00000369985.4_Missense_Mutation_p.G502D|MYO6_ENST00000369977.3_Missense_Mutation_p.G502D|MYO6_ENST00000369975.1_Missense_Mutation_p.G502D			Q9UM54	MYO6_HUMAN	myosin VI	502	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAGGTTTAGGTGTTAATGAA	0.313000													17	63					0	0	0.000229342	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661379	21661379	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:21661379C>T	ENST00000229314.5	+	3	289	c.180C>T	c.(178-180)ttC>ttT	p.F60F	GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000540141.1_Silent_p.F60F	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	60	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						GATTCTTCTTCCAAAAACATA	0.338000													10	47					0	0	0.000442599	0	0
S100A16	140576	broad.mit.edu	37	1	153580154	153580154	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:153580154C>T	ENST00000368704.1	-	3	353	c.168G>A	c.(166-168)cgG>cgA	p.R56R	S100A16_ENST00000368703.2_Silent_p.R56R|S100A16_ENST00000368705.2_Silent_p.R56R|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368706.4_Silent_p.R56R			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	56	EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGCAGCCTTCCGGTTCCCTG	0.592000													7	27					0	0	0.000157383	0	0
KLF11	8462	broad.mit.edu	37	2	10188285	10188285	+	Missense_Mutation	SNP	C	C	T	rs142673414		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:10188285C>T	ENST00000535335.1	+	3	986	c.770C>T	c.(769-771)cCt>cTt	p.P257L	KLF11_ENST00000540845.1_Missense_Mutation_p.P257L|KLF11_ENST00000305883.1_Missense_Mutation_p.P274L	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	274					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AAAACCACCCCTCTGATTTCT	0.532000													42	204					0	0	0.000437636	0	0
CD248	57124	broad.mit.edu	37	11	66083679	66083679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:66083679G>A	ENST00000311330.3	-	1	836	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	274						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGGGCACAGGGGTCCTCGCAA	0.672000													5	21					0	0	0.000602214	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171796	57171796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:57171796G>A	ENST00000371244.4	+	8	1391	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	442					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CGTGTAAGAAGAAAAAATCCA	0.308000													7	51					0	0	0.000157383	0	0
ABCC10	89845	broad.mit.edu	37	6	43412955	43412955	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:43412955A>G	ENST00000244533.3	+	12	3208	c.2849A>G	c.(2848-2850)aAt>aGt	p.N950S	ABCC10_ENST00000372530.4_Missense_Mutation_p.N978S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	978	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGGTGTAAATTCCCTCTGC	0.587000													7	34					0	0	8.12818e-05	0	0
XIRP1	165904	broad.mit.edu	37	3	39226633	39226633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:39226633G>A	ENST00000340369.3	-	2	4532	c.4304C>T	c.(4303-4305)cCc>cTc	p.P1435L	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P118L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1435							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGTGAGGTGGGATCATGGTT	0.642000													9	70					0	0	0.000673444	0	0
ALPK2	115701	broad.mit.edu	37	18	56246161	56246161	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:56246161T>A	ENST00000361673.3	-	4	2060	c.1847A>T	c.(1846-1848)cAa>cTa	p.Q616L	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	616							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTGAAGTTTGAAGGGTTTT	0.468000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	78					0	0	0.000978159	0	0
SIAH3	283514	broad.mit.edu	37	13	46357980	46357980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:46357980C>T	ENST00000400405.2	-	2	454	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	116					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GGCGGCCTTCCCACTGGCAGG	0.667000													12	47					0	0	0.000308642	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307121	140307121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140307121G>A	ENST00000253807.2	+	1	644	c.644G>A	c.(643-645)gGa>gAa	p.G215E	PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G215E|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGAGACGCACAA	0.587000													10	36					0	0	0.000442599	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516526	3516526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:3516526C>T	ENST00000500728.2	-	7	1110	c.964G>A	c.(964-966)Gag>Aag	p.E322K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	322	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662000													12	52					0	0	0.000978159	0	0
ZUFSP	221302	broad.mit.edu	37	6	116966922	116966922	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:116966922G>A	ENST00000368576.3	-	9	1887	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	548						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CCAATATCTGGTATTGCTTAT	0.343000													18	48					0	0	0.000175454	0	0
HOXB3	3213	broad.mit.edu	37	17	46627737	46627737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:46627737G>A	ENST00000470495.1	-	2	2702	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000460160.1_Nonsense_Mutation_p.Q287*|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Nonsense_Mutation_p.Q285*|HOXB3_ENST00000489475.1_Nonsense_Mutation_p.Q346*|HOXB3_ENST00000485909.2_Nonsense_Mutation_p.Q287*|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.Q419*|HOXB3_ENST00000472863.1_Nonsense_Mutation_p.Q346*|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	419					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTACCCTGAGGAGGAGGC	0.612000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	66					0	0	0.000978159	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442010	41442010	+	RNA	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:41442010G>A	ENST00000599198.1	+	0	234					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AGTTCCGAGAGAAATATGGGG	0.512000													5	18					0	0	0.000602214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207162009	207162009	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:207162009A>G	ENST00000374423.3	+	4	486	c.100A>G	c.(100-102)Agt>Ggt	p.S34G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	34							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GACCAGACAGAGTAGACGTCA	0.388000													8	41					0	0	0.000157383	0	0
VTN	7448	broad.mit.edu	37	17	26696681	26696681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:26696681C>T	ENST00000226218.4	-	3	994	c.376G>A	c.(376-378)Gag>Aag	p.E126K	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	126					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCGCCCACCTCAGGCGCAGGG	0.632000													7	18					0	0	8.12818e-05	0	0
ALG2	85365	broad.mit.edu	37	9	101980325	101980325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:101980325G>A	ENST00000476832.1	-	2	1203	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	ALG2_ENST00000319033.6_Missense_Mutation_p.S288F	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	381					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGCTTTTAAGGAAGGTTCACG	0.488000													10	71					0	0	0.000673444	0	0
TECPR1	25851	broad.mit.edu	37	7	97862900	97862900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:97862900G>A	ENST00000447648.2	-	11	1804	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	TECPR1_ENST00000542604.1_Missense_Mutation_p.S432L|TECPR1_ENST00000379795.3_Missense_Mutation_p.S502L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	502						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCAGCGGCCGAGTGGCTGGG	0.692000													11	29					0	0	0.00010058	0	0
THSD4	79875	broad.mit.edu	37	15	72050291	72050291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:72050291G>A	ENST00000355327.3	+	15	2600	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	THSD4_ENST00000261862.6_Missense_Mutation_p.M822I|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.M462I			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	822	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGTGTGCATGACCAACCATG	0.657000													13	17					0	0	0.000566183	0	0
OR5D16	390144	broad.mit.edu	37	11	55606461	55606461	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55606461C>T	ENST00000378396.1	+	1	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCCTCCATCATTGCTCCCA	0.398000													5	49					0	0	3.59834e-05	0	0
LINC01098	285501	broad.mit.edu	37	4	178897057	178897057	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:178897057A>T	ENST00000507870.1	+	5	722	c.260A>T	c.(259-261)aAt>aTt	p.N87I																	lung(8)|prostate(1)	9						AGCCTACAGAATGTGTCTGAT	0.398000													9	62					0	0	0.000442599	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602030	58602030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58602030C>T	ENST00000287275.1	-	6	1147	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E253K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	253						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATGGGATTTCTTTCTGAGAA	0.398000													7	53					0	0	0.000274275	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196141	52196141	+	RNA	SNP	C	C	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:52196141C>A	ENST00000602324.1	-	0	568					NR_029482.1|NR_029693.1																						GGGACGGGGCCCGGCGGGGAC	0.662000													9	19					0.000442599	0.00383804	0.000442599	1	0
KIF17	57576	broad.mit.edu	37	1	20998650	20998650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:20998650C>T	ENST00000247986.2	-	12	2813	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	KIF17_ENST00000375044.1_Missense_Mutation_p.E735K|KIF17_ENST00000400463.3_Missense_Mutation_p.E835K|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	835					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCTGAAACTCGGACTGCAGA	0.557000													15	16					0	0	0.000566183	0	0
SCN9A	6335	broad.mit.edu	37	2	167142981	167142981	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:167142981G>A	ENST00000375387.4	-	11	1810	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	SCN9A_ENST00000409435.1_Silent_p.S489S|SCN9A_ENST00000303354.6_Silent_p.S490S|SCN9A_ENST00000409672.1_Silent_p.S489S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	489			S -> N.			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTCTCCACTGGAGAGCTTCT	0.423000													14	59					0	0	0.000151284	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806562	6806562	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6806562C>T	ENST00000307401.4	+	1	315	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGGCTGTGCCCTTCAGATGT	0.532000													10	27					0	0	0.000673444	0	0
ARID3C	138715	broad.mit.edu	37	9	34623474	34623474	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:34623474G>A	ENST00000378909.2	-	4	905	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	271	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGGCAGGCCGGAGGTGGAAC	0.682000													9	51					0	0	0.000274275	0	0
OR2G2	81470	broad.mit.edu	37	1	247752457	247752457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247752457G>A	ENST00000320065.1	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			tctgcagCCAGCCAAGAGTAG	0.483000													22	45					0	0	0.000229342	0	0
KRT84	3890	broad.mit.edu	37	12	52777487	52777487	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:52777487G>A	ENST00000257951.3	-	2	708	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	214	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCTCTCGAAGAGTGGCT	0.547000													4	29					0	0	3.59834e-05	0	0
NPAP1	23742	broad.mit.edu	37	15	24922351	24922351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24922351C>T	ENST00000329468.2	+	1	1811	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCACTTTCCACCACACCAAAA	0.507000													9	77					0	0	0.000442599	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890084	88890084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:88890084C>T	ENST00000303236.3	-	6	1343	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G197R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	348					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATGACTTTCCCATCCTTAAGT	0.353000													28	185					0	0	0.000227799	0	0
LPAR4	2846	broad.mit.edu	37	X	78010720	78010720	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:78010720C>T	ENST00000435339.2	+	2	759	c.354C>T	c.(352-354)ttC>ttT	p.F118F	LPAR4_ENST00000373301.2_Silent_p.F118F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	118						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GAACTGCATTCCTTACCAACA	0.418000													9	17					0	0	0.000673444	0	0
CSMD3	114788	broad.mit.edu	37	8	113529367	113529367	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:113529367A>C	ENST00000297405.5	-	28	4896	c.4652T>G	c.(4651-4653)gTt>gGt	p.V1551G	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1447G|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1511G|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1551G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1551	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATTGAAAAACAACAGTGTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	38					0	0	3.59834e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34209160	34209160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:34209160G>A	ENST00000373381.4	-	14	2070	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	592	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGTAGTTGGGAGACAGGACA	0.567000													18	50					0	0	0.000132079	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696950	50696950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:50696950G>A	ENST00000008391.3	+	5	1036	c.808G>A	c.(808-810)Gat>Aat	p.D270N	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	270							DNA binding|sequence-specific DNA binding transcription factor activity	p.D270Y(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAGAAATTGGATAGGCTTGG	0.388000													12	61					0	0	0.000219431	0	0
BRD9	65980	broad.mit.edu	37	5	878594	878594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:878594G>A	ENST00000323510.4	-	8	858	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.L267F|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.L330F|BRD9_ENST00000467963.1_Missense_Mutation_p.L383F			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	383							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCACTGGAGAGAAAGGTGACT	0.567000													5	52					0	0	3.59834e-05	0	0
DHX40	79665	broad.mit.edu	37	17	57665345	57665345	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:57665345C>T	ENST00000451169.2	+	15	1728	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	DHX40_ENST00000251241.4_Silent_p.L505L|DHX40_ENST00000425628.3_Silent_p.L428L			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	505							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.L505M(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGCTGCTTCCCTGGATTGTGA	0.398000													23	90					0	0	0.000375601	0	0
HRNR	388697	broad.mit.edu	37	1	152188491	152188491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152188491C>T	ENST00000368801.2	-	3	5689	c.5614G>A	c.(5614-5616)Ggt>Agt	p.G1872S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1872					keratinization		calcium ion binding|protein binding	p.G1872C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACCAAATCCAGAA	0.572000													46	528					0	0	0.000781405	0	0
FAT2	2196	broad.mit.edu	37	5	150924410	150924410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:150924410G>A	ENST00000261800.5	-	9	6290	c.6278C>T	c.(6277-6279)tCt>tTt	p.S2093F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2093	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGTGGCAGATACCTGAAA	0.443000													15	59					0	0	0.000566183	0	0
DMBT1	1755	broad.mit.edu	37	10	124399773	124399773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:124399773C>T	ENST00000368909.3	+	52	6879	c.6773C>T	c.(6772-6774)tCc>tTc	p.S2258F	DMBT1_ENST00000368955.3_Missense_Mutation_p.S2248F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1630F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2248F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1630F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S978F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2258F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2258	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGAACATTTCCTTTTATACT	0.463000													14	78					0	0	0.000219431	0	0
NRXN3	9369	broad.mit.edu	37	14	79175787	79175787	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:79175787G>A	ENST00000554719.1	+	4	821	c.330G>A	c.(328-330)ctG>ctA	p.L110L	NRXN3_ENST00000335750.5_Silent_p.L110L|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAATGGCCTGATCCTCTTCA	0.517000													12	35					0	0	0.000219431	0	0
FAM47C	442444	broad.mit.edu	37	X	37027432	37027432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:37027432C>T	ENST00000358047.3	+	1	1001	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	317										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACGCGTATCTCATCTCCGCCC	0.612000													7	26					0	0	8.12818e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75037864	75037864	+	Missense_Mutation	SNP	C	C	T	rs78010348		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75037864C>T	ENST00000326665.5	-	14	3748	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1177	Glu-rich.			Missing (in Ref. 1; CAD39076).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCCCTCCTCCTTCTTTCCT	0.493000													14	93					0	0	0.000219431	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372708	151372708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:151372708G>A	ENST00000287878.4	-	4	986	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PRKAG2_ENST00000492843.1_Missense_Mutation_p.S37F|PRKAG2_ENST00000392801.2_Missense_Mutation_p.S117F|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000433631.2_Missense_Mutation_p.S37F	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	161					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TGACGGAGAGGAGGAGAGGCC	0.587000													37	44					0	0	0.000319135	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38738878C>T	ENST00000449082.2	-	27	5832	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1945					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGTGGCTTCATCTTCATTT	0.478000													12	55					0	0	0.000978159	0	0
PACRG	135138	broad.mit.edu	37	6	163483307	163483307	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:163483307G>A	ENST00000337019.3	+	4	641	c.417G>A	c.(415-417)ggG>ggA	p.G139G	PACRG_ENST00000366889.2_Silent_p.G139G|PACRG_ENST00000366888.2_Silent_p.G139G	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	139										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AACACGGTGGGAACAAGATCC	0.428000													6	23					0	0	0.000157383	0	0
PREX1	57580	broad.mit.edu	37	20	47305214	47305214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:47305214G>A	ENST00000396220.1	-	10	1337	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	PREX1_ENST00000371941.3_Missense_Mutation_p.P439S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	439	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGCACTTGGGGACAGTGCTC	0.557000													6	28					0	0	0.000157383	0	0
NEB	4703	broad.mit.edu	37	2	152369315	152369315	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152369315T>C	ENST00000427231.2	-	161	23480	c.23278A>G	c.(23278-23280)Aat>Gat	p.N7760D	NEB_ENST00000397345.3_Missense_Mutation_p.N7760D|NEB_ENST00000409198.1_Missense_Mutation_p.N6059D|NEB_ENST00000172853.10_Missense_Mutation_p.N6059D|NEB_ENST00000604864.1_Missense_Mutation_p.N7760D|NEB_ENST00000603639.1_Missense_Mutation_p.N7760D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6059					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAAGTGAAATTGGCTTTCTCC	0.393000													7	29					0	0	0.000274275	0	0
ZNF777	27153	broad.mit.edu	37	7	149152510	149152510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:149152510G>A	ENST00000247930.4	-	2	927	c.604C>T	c.(604-606)Cag>Tag	p.Q202*		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCATGGCCTGGGCCTCCAGC	0.602000													14	126					0	0	0.000308642	0	0
PLCE1	51196	broad.mit.edu	37	10	96066191	96066191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96066191C>T	ENST00000260766.3	+	26	6264	c.5630C>T	c.(5629-5631)tCt>tTt	p.S1877F	PLCE1_ENST00000371375.1_Missense_Mutation_p.S1569F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1877F|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1569F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1877	C2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGATTGTCTCTGGTCAGAAT	0.522000													7	53					0	0	0.000442599	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133674003	133674003	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:133674003C>T	ENST00000310926.4	-	4	705	c.432G>A	c.(430-432)caG>caA	p.Q144Q	SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	144					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCAATGCTTCTGGCAGAGCT	0.627000													4	22					0	0	0.00024832	0	0
ZMYND19	116225	broad.mit.edu	37	9	140477022	140477022	+	Silent	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:140477022G>A	ENST00000298585.2	-	6	883	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	219						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GCTCATGCTGGAAGGGACGCT	0.647000													8	40					0	0	0.00010058	0	0
ZNF619	285267	broad.mit.edu	37	3	40528403	40528403	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:40528403C>T	ENST00000447116.2	+	6	829	c.522C>T	c.(520-522)ccC>ccT	p.P174P	ZNF619_ENST00000522736.1_Silent_p.P125P|ZNF619_ENST00000429348.2_Silent_p.P134P|ZNF619_ENST00000456778.1_Silent_p.P90P|ZNF619_ENST00000314686.5_Silent_p.P118P|ZNF619_ENST00000432264.2_Silent_p.P134P|ZNF619_ENST00000521353.1_Silent_p.P174P|ZNF619_ENST00000520737.1_3'UTR	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	174					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACGTTCCCCAGCACCCTG	0.448000													8	32					0	0	0.000157383	0	0
SGMS1	259230	broad.mit.edu	37	10	52067882	52067882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52067882G>A	ENST00000361781.2	-	10	1881	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	SGMS1_ENST00000429490.1_Missense_Mutation_p.H139Y	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	314					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAAATCCAGTGATACCACCAG	0.473000													6	27					0	0	3.59834e-05	0	0
LOXL4	84171	broad.mit.edu	37	10	100020801	100020801	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:100020801C>T	ENST00000260702.3	-	4	690	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	180	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CATACTTCACCTCCACGGCTC	0.667000													6	28					0	0	0.000157383	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390337	150390337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150390337G>A	ENST00000223293.5	+	3	1057	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	321						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAAGTTAATGATATTTTTGA	0.328000													13	34					0	0	0.000219431	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856096	12856096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:12856096C>T	ENST00000332296.7	+	4	1479	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S214F	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	459										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGCCCTTCCTGTGGCTCA	0.562000													7	68					0	0	0.000308642	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981673	92981673	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:92981673C>T	ENST00000268164.3	+	4	618	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ST8SIA2_ENST00000539113.1_Silent_p.F106F	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	127					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ATTACATCTTCGATCGAGACA	0.463000													20	140					0	0	0.000132079	0	0
TROAP	10024	broad.mit.edu	37	12	49721110	49721110	+	Silent	SNP	C	C	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:49721110C>T	ENST00000551245.1	+	8	999	c.888C>T	c.(886-888)acC>acT	p.T296T	TROAP_ENST00000257909.3_Silent_p.T296T|TROAP_ENST00000547923.1_Silent_p.T4T			Q12815	TROAP_HUMAN	trophinin associated protein	296					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTCACATACCAGGGTGAGAT	0.527000													7	62					0	0	0.000274275	0	0
POF1B	79983	broad.mit.edu	37	X	84561284	84561284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:84561284G>A	ENST00000262753.4	-	12	1365	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	POF1B_ENST00000373145.3_Missense_Mutation_p.S407F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATGTCGAAGAGAGAGATTGTT	0.348000													9	21					0	0	0.000978159	0	0
GABRB1	2560	broad.mit.edu	37	4	47033990	47033990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47033990G>A	ENST00000295454.3	+	2	432	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	47					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCTCAAAGGATATGACATT	0.443000													29	110					0	0	0.000491102	0	0
RERE	473	broad.mit.edu	37	1	8418745	8418745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:8418745delG	ENST00000337907.3	-	21	4484	c.3850delC	c.(3850-3852)tgfs	p.L1285fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Frame_Shift_Del_p.L731fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.L1285fs|RERE_ENST00000377464.1_Frame_Shift_Del_p.L1017fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1285					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TAGGCCAGCAGGGGGTCCGTG	0.672													17	39	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	4	---	---	---	---					
RAD54L2	23132	broad.mit.edu	37	3	51675762	51675765	+	Splice_Site	DEL	CAGC	CAGC	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:51675762_51675765delCAGC	ENST00000409535.1	+	14	2356_2357	c.2231_splice	c.e14-1	p.744_splice	RAD54L2_ENST00000296477.3_Splice_Site_p.438_splice	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	744	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTTTCTGTTTCAGCCAGAGTCTTT	0.495													2	4	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													7	19	---	---	---	---					
GPC2	221914	broad.mit.edu	37	7	99768025	99768028	+	Frame_Shift_Del	DEL	GGCC	GGCC	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99768025_99768028delGGCC	ENST00000292377.2	-	10	1732_1735	c.1565_1568delGGCC	c.(1564-1569)ctfs	p.RP522fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	522						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCCGAGGAGGCCGGGCTGGGGG	0.652													6	12	---	---	---	---					
FEZF1	389549	broad.mit.edu	37	7	121942979	121942980	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:121942979_121942980insT	ENST00000442488.2	-	3	1009_1010	c.942_943insA	c.(940-945)aactcafs	p.NS314fs	FEZF1_ENST00000427185.2_Frame_Shift_Ins_p.NS264fs|FEZF1_ENST00000331178.4_Frame_Shift_Ins_p.NS310fs	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	314					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CATTTGTGAGGTTTTTCCTAAG	0.371													17	148	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													6	6	---	---	---	---					
BRD7	29117	broad.mit.edu	37	16	50357512	50357512	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:50357512delG	ENST00000394688.3	-	12	1588	c.1429delC	c.(1429-1431)aafs	p.Q477fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.Q477fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	477					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCATCTCTTGTAGGGTCCTG	0.403													7	34	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349891	89349895	+	Frame_Shift_Del	DEL	TTCCT	TTCCT	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:89349891_89349895delTTCCT	ENST00000301030.4	-	9	3515_3519	c.3055_3059delAGGAA	c.(3055-3060)gfs	p.RK1019fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.RK1019fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1019	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTCTTCTCCTTCCTTTCCTTATCG	0.483													31	119	---	---	---	---