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
MTHFR	4524	broad.mit.edu	37	1	11861244	11861244	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:11861244A>G	uc001atb.1	-	1	716	c.518T>C	c.(517-519)cTg>cCg	p.L173P	MTHFR_uc001atc.2_Missense_Mutation_p.L150P	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	150					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGTTCTTCAGGCCCAGCTG	0.602												
IFI6	2537	broad.mit.edu	37	1	27992966	27992966	+	Missense_Mutation	SNP	C	C	T	rs74937564		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:27992966C>T	uc001bon.1	-	4	466	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I	NM_022873	NP_075011	P09912	IFI6_HUMAN	Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.	107					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTATGACGACGCTGCTG	0.542												
LRRC40	55631	broad.mit.edu	37	1	70641517	70641517	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:70641517T>G	uc001der.2	-	6	1091	c.953A>C	c.(952-954)gAc>gCc	p.D318A		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	318										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTGCTTAGGTCAAGCCTTTC	0.289												
NEXN	91624	broad.mit.edu	37	1	78392171	78392171	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:78392171A>T	uc001dic.4	+	6	859	c.562A>T	c.(562-564)Aat>Tat	p.N188Y	NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	188	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATGAAAAAGAATTTTGAGGA	0.313												
WDR63	126820	broad.mit.edu	37	1	85560129	85560129	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:85560129C>T	uc001dkt.3	+	9	1255	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	WDR63_uc009wcl.3_Missense_Mutation_p.S316L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	355										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAGCTGTGTCGGTAGCCGTG	0.418												
HRNR	388697	broad.mit.edu	37	1	152192836	152192836	+	Silent	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:152192836A>G	uc001ezt.1	-	2	1345	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	423					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)			CGTGGCCTGGAGACTGGCCAG	0.617												
SPTA1	6708	broad.mit.edu	37	1	158654966	158654966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:158654966C>T	uc001fst.1	-	1	395	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	66					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCACTtccccagatcatct	0.453												
ANKRD30A	91074	broad.mit.edu	37	10	37506710	37506710	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:37506710G>A	uc021ppc.1	+	32	3102	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ANKRD30A_uc001iza.1_Silent_p.E1001E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1057						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATCGAAGAGCAGCATAGGA	0.328												
ADAMTS14	140766	broad.mit.edu	37	10	72495039	72495039	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:72495039C>T	uc001jrg.3	+	8	1476	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	489	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGCAGTGGCTACCAGACCT	0.592												
PTEN	5728	broad.mit.edu	37	10	89692993	89692993	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89692993G>T	uc001kfb.3	+	4	1509	c.477G>T	c.(475-477)agG>agT	p.R159S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGAAGTAAGGACCAGAGACA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
COL17A1	1308	broad.mit.edu	37	10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:105798253G>A	uc001kxr.3	-	44	3150	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	994	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P994L(4)|p.P994P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597												
NANOS1	340719	broad.mit.edu	37	10	120790044	120790044	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:120790044T>A	uc009xzf.1	+	0	817	c.731T>A	c.(730-732)cTg>cAg	p.L244Q		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	244					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGTCCCGTGCTGCGCCGCTAC	0.687												
RASGRP2	10235	broad.mit.edu	37	11	64497600	64497600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:64497600delC	uc009ypu.3	-	12	1706	c.1479delG	c.(1477-1479)gggfs	p.G493fs	RASGRP2_uc001oat.3_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.3_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.3_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.3_Frame_Shift_Del_p.G493fs	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	493			G -> A (in dbSNP:rs2301562).		platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCCCATGCGCCCCCCCAACA	0.642												
OR10S1	219873	broad.mit.edu	37	11	123847486	123847486	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:123847486G>A	uc001pzm.1	-	0	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTTGTTCCGCAAAGTGTAA	0.527												
AGAP2	116986	broad.mit.edu	37	12	58125706	58125706	+	Silent	SNP	C	C	T	rs145122115		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:58125706C>T	uc001spq.3	-	7	1839	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	613					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.E612Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCGGTGAGGACGGGAGGGAAG	0.622												
GPR133	283383	broad.mit.edu	37	12	131487809	131487809	+	Missense_Mutation	SNP	C	C	T	rs142314859		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:131487809C>T	uc010tbm.2	+	10	1761	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	GPR133_uc001uit.4_Missense_Mutation_p.T369M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	369					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCAGCACGCCCCAGGTC	0.622												
N6AMT2	221143	broad.mit.edu	37	13	21331636	21331636	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr13:21331636G>A	uc001uno.1	-	1	183	c.102C>T	c.(100-102)ggC>ggT	p.G34G	N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	34							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATCATCCTCGCCTGGCTCAA	0.418												
CHD8	57680	broad.mit.edu	37	14	21876530	21876530	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:21876530C>G	uc001war.2	-	11	2736	c.2671G>C	c.(2671-2673)Ggc>Cgc	p.G891R	CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	891	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCAGACTGCCATGGTACACA	0.438												
DHRS2	10202	broad.mit.edu	37	14	24109023	24109023	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24109023C>T	uc001wkt.4	+	3	786	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	91					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACTGTGGGGGCGTCGACTTCC	0.637												
LRRC16B	90668	broad.mit.edu	37	14	24524519	24524519	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24524519G>A	uc001wlj.2	+	8	762	c.605_splice	c.e8+1	p.R202_splice		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	202										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGGAGAGCCGGTAAGCAGAT	0.552												
C15orf2	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr15:24921169G>A	uc001ywo.3	+	0	629	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	52					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCTGTTCCGCCGGAACGCC	0.756												
SOLH	6650	broad.mit.edu	37	16	603459	603459	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:603459C>T	uc002chi.3	+	13	3567	c.3204C>T	c.(3202-3204)acC>acT	p.T1068T	SOLH_uc002chj.3_Silent_p.T128T	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	1068					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1068T(2)		breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCAAGGGGACCCACAGCCCCC	0.687												
WDR90	197335	broad.mit.edu	37	16	715745	715745	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:715745C>T	uc002cii.1	+	34	4432	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1460										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGGAGTGTGCGGGTGTGGGC	0.672												
OTOA	146183	broad.mit.edu	37	16	21698817	21698817	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:21698817C>T	uc002djh.3	+	6	484	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	161					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTGTTTCTCATCACACTGG	0.542												
SCNN1G	6340	broad.mit.edu	37	16	23226433	23226433	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:23226433C>A	uc002dlm.1	+	12	1732	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	531					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTCCAACTTCGGTGGCCAGC	0.547												
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642												
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57054711C>T	uc021tiu.1	+	1	214	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562												
NLRC5	84166	broad.mit.edu	37	16	57088674	57088674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57088674C>T	uc021tiu.1	+	23	3645	c.3518C>T	c.(3517-3519)aCg>aTg	p.T1173M	NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGAGCCAGACGGGACTGTCC	0.592												
KCTD19	146212	broad.mit.edu	37	16	67325657	67325657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:67325657C>T	uc002esu.2	-	12	2353	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M	KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGA	0.572												
PKD1L2	114780	broad.mit.edu	37	16	81187697	81187697	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:81187697G>C	uc002fgh.1	-	25	4275	c.4275C>G	c.(4273-4275)caC>caG	p.H1425Q	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1425	PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCAGCCAGGTGGTGGGGCT	0.607												
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578280G>A	uc002gim.2	-	5	763	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGCTGAGGAGGGGCCAGACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGGACGCGGGTGCCGGGCGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592												
MYH13	8735	broad.mit.edu	37	17	10213133	10213133	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:10213133G>A	uc002gmk.1	-	33	4761	c.4671C>T	c.(4669-4671)caC>caT	p.H1557H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1557					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTCTCCTCGTGTTCCAAGG	0.498												
KRT27	342574	broad.mit.edu	37	17	38936090	38936090	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:38936090C>T	uc002hvg.3	-	3	749	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	236	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A236A(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.488												
SEPT4	5414	broad.mit.edu	37	17	56599396	56599396	+	Silent	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:56599396C>A	uc010wnx.2	-	6	919	c.774G>T	c.(772-774)ctG>ctT	p.L258L	SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	243					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCGGTTCAGGCCACTCT	0.542												
SMG8	55181	broad.mit.edu	37	17	57290240	57290240	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:57290240A>G	uc002ixi.3	+	2	2098	c.2056A>G	c.(2056-2058)Acc>Gcc	p.T686A		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	686					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAACCTCAAACCCAAGGAGA	0.453												
CASKIN2	57513	broad.mit.edu	37	17	73498060	73498062	+	In_Frame_Del	DEL	GGA	GGA	-	rs150879399		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:73498060_73498062delGGA	uc002joc.3	-	17	3643_3645	c.3093_3095delTCC	c.(3091-3096)cctcca>cca	p.1031_1032PP>P	CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1031	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	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)			GCTAGAAGCTGGAGGAGACTCGC	0.690												
PTPRS	5802	broad.mit.edu	37	19	5221107	5221107	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:5221107T>C	uc002mbv.3	-	19	3593	c.3359A>G	c.(3358-3360)aAc>aGc	p.N1120S	PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1120					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTTGAGCAGGTTGAAGGCAGT	0.622												
EMR1	2015	broad.mit.edu	37	19	6928180	6928180	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:6928180G>A	uc002mfw.3	+	16	2285	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	749					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGAGACAGGGTTCATCTGGA	0.498												
ZNF333	84449	broad.mit.edu	37	19	14829286	14829286	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14829286A>G	uc002mzn.3	+	11	1281	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	ZNF333_uc002mzk.4_Missense_Mutation_p.R274G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACCTTATCAGGCATGAGAA	0.453												
OR7A17	26333	broad.mit.edu	37	19	14991924	14991924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14991924G>A	uc010xob.2	-	0	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATGTTAATGAGCATCTTTGGG	0.473												
PSG5	5673	broad.mit.edu	37	19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:43679606G>A	uc002ovu.3	-	3	856	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	242	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498												
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	by1000genomes	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:53854397G>C	uc010ydv.1	+	3	586	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408												
LENG8	114823	broad.mit.edu	37	19	54969780	54969780	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:54969780C>T	uc002qfv.1	+	13	2353	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	LENG8_uc002qfw.2_Intron|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	740							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTCCTGGCCGCAGGCCTCC	0.602												
KIR3DL2	3805	broad.mit.edu	37	19	55316286	55316286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:55316286G>A	uc010yfl.2	+	2	142	c.109G>A	c.(109-111)Gct>Act	p.A37T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	132					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCCAGCGCTGTGGTGCC	0.582												
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:56369522C>T	uc002qmd.4	+	2	1185	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	255	NACHT.						ATP binding	p.R255R(1)		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)		GATGGAGAAACGGCCGGTGCA	0.577												
LTBP1	4052	broad.mit.edu	37	2	33335817	33335817	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:33335817G>A	uc021vft.1	+	4	1056	c.1033_splice	c.e4+1	p.L345_splice		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	345					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTTTTCAGCGTGAGTATA	0.423												
KRCC1	51315	broad.mit.edu	37	2	88327482	88327482	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:88327482C>T	uc002sso.1	-	3	995	c.601G>A	c.(601-603)Gag>Aag	p.E201K	KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	201	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTCCACCTCTGTTTTCTTT	0.398												
IL18RAP	8807	broad.mit.edu	37	2	103057838	103057838	+	Splice_Site	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:103057838G>T	uc002tbx.3	+	7	1280	c.796_splice	c.e7+1	p.G266_splice	IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	266	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTAGAACTTGGTAAGCTGGGC	0.433												
C2orf27A	29798	broad.mit.edu	37	2	132508374	132508374	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:132508374G>A	uc002ttf.1	+	1						NM_013310	NP_037442	Q580R0	CB027_HUMAN	Homo sapiens chromosome 2 open reading frame 27A (C2orf27A), mRNA.											kidney(1)	1						ATCAATTTTTGTGCATTCCCA	0.383												
LRP2	4036	broad.mit.edu	37	2	170009381	170009381	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170009381A>G	uc002ues.3	-	66	12602	c.12389T>C	c.(12388-12390)cTt>cCt	p.L4130P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4130					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.N4129N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCTGCACAAGATTATTGCG	0.478												
LRP2	4036	broad.mit.edu	37	2	170101420	170101420	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170101420C>T	uc002ues.3	-	21	3426	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	LRP2_uc010zdf.1_Silent_p.A934A	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1071	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S1070L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGGTGAACGCCGAAGATG	0.473												
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170929938_170929940delGAA	uc010zdi.2	+	35	5020_5022	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379												
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(2)|p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473												
MAPK1	5594	broad.mit.edu	37	22	22142672	22142672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:22142672G>A	uc002zvn.3	-	5	970	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	244	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GGGGATCCAAGAATACCTATC	0.353												
IL2RB	3560	broad.mit.edu	37	22	37524496	37524496	+	Silent	SNP	G	G	T	rs143704470		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:37524496G>T	uc003aqv.1	-	9	1427	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	432					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGAGGAGACTGGGGGAGAAGA	0.662												
TMPPE	643853	broad.mit.edu	37	3	33134390	33134390	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:33134390C>A	uc003cfk.2	-	1	1510	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	433						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATGGGTATCCCGTAGTAGGC	0.592												
TMF1	7110	broad.mit.edu	37	3	69075241	69075241	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:69075241T>C	uc011bfx.2	-	13	3021	c.2774A>G	c.(2773-2775)aAg>aGg	p.K925R	TMF1_uc003dnn.3_Missense_Mutation_p.K922R	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	922					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.S925Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAAAATGGCTTGCGTTCCTT	0.393												
CPN2	1370	broad.mit.edu	37	3	194062679	194062679	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:194062679G>A	uc003fts.3	-	1	843	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_uc021xix.1_Silent_p.N251N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	251					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602												
RGS12	6002	broad.mit.edu	37	4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:3432638C>T	uc003ggw.3	+	16	4974	c.4070C>T	c.(4069-4071)cCg>cTg	p.P1357L	RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1357L(2)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667												
GABRB1	2560	broad.mit.edu	37	4	47405592	47405592	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:47405592G>T	uc003gxh.3	+	6	1073	c.699G>T	c.(697-699)ctG>ctT	p.L233L	GABRB1_uc011bze.2_Silent_p.L163L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	233					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)	ATCCACGACTGTCACTAAGTT	0.398												
PDGFRA	5156	broad.mit.edu	37	4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55133901G>A	uc003han.4	+	6	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	372	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAAGATTCAGGAAATAAGGTA	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
PDGFRA	5156	broad.mit.edu	37	4	55144136	55144136	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55144136G>C	uc003han.4	+	13	2296	c.1965G>C	c.(1963-1965)ttG>ttC	p.L655F	PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	655	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGCCACATTTGAACATTGTAA	0.458			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512												
GRID2	2895	broad.mit.edu	37	4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:94411879G>A	uc011cdt.2	+	11	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_uc011cdu.2_Missense_Mutation_p.A555T	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	650					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCTTACACGGCAAACCTCGC	0.438												
NEUROG2	63973	broad.mit.edu	37	4	113436257	113436257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:113436257C>T	uc003ias.3	-	1	702	c.375G>A	c.(373-375)atG>atA	p.M125I	NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	125	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGAGGTTGTGCATGCGGTTTC	0.672												
PRDM9	56979	broad.mit.edu	37	5	23526957	23526957	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:23526957G>A	uc003jgo.3	+	10	1942	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.G586G(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGC	0.607										HNSCC(3;0.000094)		
ANXA2R	389289	broad.mit.edu	37	5	43040058	43040058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:43040058C>A	uc003jnf.3	-	0	390	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	31							receptor activity										CCACGATCTTCTGAACTCACA	0.567											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAP3K1	4214	broad.mit.edu	37	5	56168506	56168506	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:56168506T>C	uc003jqw.4	+	7	1963	c.1462T>C	c.(1462-1464)Tgt>Cgt	p.C488R		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	488					cellular response to mechanical stimulus|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	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTTAATATGTCCCCTTTG	0.279												
GPR98	84059	broad.mit.edu	37	5	89989726	89989726	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:89989726C>T	uc003kju.3	+	32	7249	c.7153C>T	c.(7153-7155)Ctg>Ttg	p.L2385L	GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2385					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)		CTTTGGTCGGCTGTTGTTGTT	0.428												
FBN2	2201	broad.mit.edu	37	5	127728841	127728841	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:127728841G>T	uc003kuu.3	-	9	1891	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	FBN2_uc003kuv.2_Silent_p.I451I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	484					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)		GTCCAGTGATGATAGGTCCCT	0.498												
PCDHGC5	8641	broad.mit.edu	37	5	140768969	140768969	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:140768969C>T	uc003lkc.2	+	0	1518	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	510	Cadherin 5.				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)			TGTCCATAAGCGCGGAGAGCG	0.662												
UHRF1BP1	54887	broad.mit.edu	37	6	34827265	34827265	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:34827265G>A	uc003oju.4	+	13	3366	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1044										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517												
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:76599857_76599858insA	uc003pih.1	+	25	3021_3022	c.2742_2743insA	c.(2740-2745)cagaaafs	p.Q914fs	MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	914					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	p.K917fs*10(1)		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)		GTGCATTACAGAAAAAAAAACA	0.381												
ZNF735	730291	broad.mit.edu	37	7	63680474	63680474	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:63680474G>A	uc011kdn.2	+	3	1045	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AATTCATACTGGAGAGAAACC	0.403												
TAF6	6878	broad.mit.edu	37	7	99706049	99706049	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:99706049G>A	uc003uth.3	-	11	1707	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	467					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTGGGCCCGAGCCTTGACC	0.642												
GRM8	2918	broad.mit.edu	37	7	126173406	126173406	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:126173406A>G	uc003vlr.2	-	7	2341	c.2030T>C	c.(2029-2031)tTt>tCt	p.F677S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	677					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCCTGCTCAAATATTCGGTG	0.502										HNSCC(24;0.065)		
UBN2	254048	broad.mit.edu	37	7	138969015	138969015	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:138969015C>A	uc011kqr.2	+	14	3364	c.3364C>A	c.(3364-3366)Cag>Aag	p.Q1122K		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1122	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATCAGCAGACAGTCTCCCAC	0.498												
ARHGEF10	9639	broad.mit.edu	37	8	1871717	1871717	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:1871717G>A	uc003wpr.3	+	19	2521	c.2343G>A	c.(2341-2343)gcG>gcA	p.A781A	ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	806					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGAGCTGCGGACTGCTGCA	0.418												
CTHRC1	115908	broad.mit.edu	37	8	104390318	104390318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:104390318C>T	uc003ylk.3	+	2	535	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	146						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGCTCACTTCGGCTAAAATG	0.373												
TG	7038	broad.mit.edu	37	8	134042090	134042090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:134042090delG	uc003ytw.3	+	40	7102	c.7061delG	c.(7060-7062)tggfs	p.W2354fs	TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2354					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGGCAACTGGGGGCTGCTG	0.577												
DOCK8	81704	broad.mit.edu	37	9	439266	439266	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:439266G>C	uc003zgf.2	+	39	5213	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1701	DHR-2.				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)		CAATGTGCTGGAGGAGTCTGT	0.552												
FOCAD	54914	broad.mit.edu	37	9	20821058	20821058	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:20821058T>C	uc003zog.1	+	15	2144	c.1781T>C	c.(1780-1782)aTa>aCa	p.I594T	FOCAD_uc003zoh.1_Missense_Mutation_p.I30T	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	594						integral to membrane	binding										ATCAGAGATATATGTAAGCAG	0.368												
TAF1L	138474	broad.mit.edu	37	9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:32630579C>T	uc003zrg.1	-	0	5089	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1667					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			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)		TCATACATATCAGGAGGCTGA	0.463												
ZNF658	26149	broad.mit.edu	37	9	40772401	40772401	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:40772401T>A	uc004abs.2	-	4	3026	c.2874A>T	c.(2872-2874)agA>agT	p.R958S	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGTGAATTCTTTGATGTA	0.438												
TNFSF8	944	broad.mit.edu	37	9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	rs145748228		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:117666360C>T	uc004bji.2	-	3	848	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	186					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418												
BCOR	54880	broad.mit.edu	37	X	39923055	39923055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:39923055C>T	uc004den.4	-	7	3945	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1218					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTGCTCCCATCGTTCTCT	0.542			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
TAF1	6872	broad.mit.edu	37	X	70680612	70680612	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:70680612C>T	uc004dzu.4	+	36	5406	c.5355C>T	c.(5353-5355)gaC>gaT	p.D1785D	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1785	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATGAGGGAGACGGTGGGGAGG	0.507												
CYLC1	1538	broad.mit.edu	37	X	83128394	83128394	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:83128394G>A	uc004eei.1	+	3	699	c.678G>A	c.(676-678)agG>agA	p.R226R	CYLC1_uc004eeh.1_Silent_p.R225R	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	226					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTTGAAGAGGTCAAAGACTA	0.318												
PCDH11X	27328	broad.mit.edu	37	X	91132792	91132792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:91132792G>A	uc004efk.2	+	1	2398	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	518	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R518S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATTGTCGTACAGGCATG	0.433												
