Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NUMA1	4926	broad.mit.edu	37	11	71729904	71729904	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:71729904T>A	ENST00000393695.3	-	10	1038	c.707A>T	c.(706-708)gAg>gTg	p.E236V	NUMA1_ENST00000351960.6_Missense_Mutation_p.E236V|NUMA1_ENST00000358965.6_Missense_Mutation_p.E236V|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	236					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCAGCTAGCTCCAGCTCCAG	0.562000			T	RARA	APL								22	110					0	0	0.012319	0	0
MTX3	345778	broad.mit.edu	37	5	79282892	79282892	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:79282892G>T	ENST00000512560.1	-	6	556	c.437C>A	c.(436-438)gCa>gAa	p.A146E	MTX3_ENST00000512528.1_Missense_Mutation_p.A207E|MTX3_ENST00000509852.1_Missense_Mutation_p.A207E	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	207					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GTAAAGAGGTGCAAGAAAACC	0.398000													17	44					2.35188e-11	5.03804e-11	0.006122	1	0
TBXAS1	6916	broad.mit.edu	37	7	139715537	139715537	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:139715537C>A	ENST00000263552.6	+	15	1782	c.1244C>A	c.(1243-1245)gCa>gAa	p.A415E	TBXAS1_ENST00000448866.1_Missense_Mutation_p.A414E|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A415E|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A460E|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A415E|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A414E|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A414E|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A347E|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A461E	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	414					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACACGGGAGGCAGCTCAGGAC	0.642000													8	80					0.000274275	0.000528512	0.004482	1	0
ATRIP	84126	broad.mit.edu	37	3	48491541	48491541	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:48491541G>T	ENST00000412052.1	+	2	529	c.67G>T	c.(67-69)Gta>Tta	p.V23L	ATRIP_ENST00000320211.3_Missense_Mutation_p.V116L|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116L	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333000								Other conserved DNA damage response genes					31	53					1.88708e-17	4.2359e-17	0.008361	1	0
LAMA5	3911	broad.mit.edu	37	20	60888727	60888727	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:60888727C>T	ENST00000252999.3	-	63	8702	c.8636G>A	c.(8635-8637)gGg>gAg	p.G2879E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2879	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGTACCCCCCGACGTAGAA	0.677000													18	76					0	0	0.008871	0	0
CHRND	1144	broad.mit.edu	37	2	233398936	233398936	+	Missense_Mutation	SNP	C	C	T	rs140455307		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:233398936C>T	ENST00000258385.3	+	11	1287	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CHRND_ENST00000457943.2_Missense_Mutation_p.R225W|CHRND_ENST00000543200.1_Missense_Mutation_p.R404W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	419					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GTCTGTAGGCCGGCCCCCAGC	0.607000													12	71					0	0	0.016723	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	75					0	0	0.009096	0	0
EDNRB	1910	broad.mit.edu	37	13	78477688	78477688	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:78477688T>C	ENST00000377211.4	-	3	960	c.808A>G	c.(808-810)Ata>Gta	p.I270V	EDNRB_ENST00000334286.5_Missense_Mutation_p.I180V|EDNRB_ENST00000446573.1_Missense_Mutation_p.I180V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	180					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCTTTCTGTATGAAAGGCACC	0.443000													33	53					0	0	0.008740	0	0
NLRP4	147945	broad.mit.edu	37	19	56369225	56369225	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56369225C>T	ENST00000301295.6	+	3	888	c.466C>T	c.(466-468)Cca>Tca	p.P156S	NLRP4_ENST00000587891.1_Missense_Mutation_p.P81S|NLRP4_ENST00000346986.5_Missense_Mutation_p.P156S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	156	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CATTCAAGGACCACAAGGAAT	0.473000													18	151					0	0	0.006122	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27840062	27840062	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:27840062G>A	ENST00000328488.2	-	1	37	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	11					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCGCCGGTGGACTTGCGAGC	0.587000													5	36					0	0	0.014758	0	0
DST	667	broad.mit.edu	37	6	56495121	56495121	+	Silent	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:56495121G>T	ENST00000370754.5	-	30	4103	c.4104C>A	c.(4102-4104)ctC>ctA	p.L1368L	DST_ENST00000312431.6_Silent_p.L1190L|DST_ENST00000370769.4_Silent_p.L1190L|DST_ENST00000370765.6_Silent_p.L864L|DST_ENST00000421834.2_Silent_p.L1190L|DST_ENST00000370788.2_Silent_p.L1190L|DST_ENST00000244364.6_Silent_p.L864L|DST_ENST00000361203.3_Silent_p.L1190L|DST_ENST00000518935.1_Silent_p.L864L|DST_ENST00000446842.2_Silent_p.L864L			Q03001	DYST_HUMAN	dystonin	1190					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCATAGAGTTTTACGA	0.323000													14	73					0.000151284	0.000295565	0.016723	1	0
RELT	84957	broad.mit.edu	37	11	73106507	73106507	+	Missense_Mutation	SNP	C	C	T	rs139368769	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:73106507C>T	ENST00000064780.2	+	11	1525	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	RELT_ENST00000393580.2_Missense_Mutation_p.R422W	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	422						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ctatgtggtccggctaagtga	0.647000													17	82					0	0	0.006122	0	0
ZNF99	7652	broad.mit.edu	37	19	22940808	22940808	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:22940808T>C	ENST00000397104.3	-	5	1629	c.1630A>G	c.(1630-1632)Acc>Gcc	p.T544A	ZNF99_ENST00000596209.1_Missense_Mutation_p.T635A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGTTGAGGACTGG	0.373000													12	61					0	0	0.010729	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30877333	30877333	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:30877333G>T	ENST00000251071.5	-	10	2708	c.1958C>A	c.(1957-1959)cCg>cAg	p.P653Q	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P653Q|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P320Q|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P653Q|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P653Q	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	653					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCTGAAGGCGGTTGTGACGT	0.388000													4	26					0.000602214	0.00114993	0.014758	1	0
C3	718	broad.mit.edu	37	19	6714452	6714452	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:6714452C>T	ENST00000245907.6	-	5	602	c.510G>A	c.(508-510)ccG>ccA	p.P170P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	170					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGCCTTCCGGGTTCTGTG	0.562000													5	43					0	0	0.014758	0	0
WNT8A	7478	broad.mit.edu	37	5	137426351	137426351	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:137426351G>A	ENST00000506684.1	+	5	935	c.699G>A	c.(697-699)gcG>gcA	p.A233A	WNT8A_ENST00000398754.1_Silent_p.A215A			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	215					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATGACCAGGCGCTGAAAATTG	0.587000													8	41					0	0	0.003080	0	0
ZNF180	7733	broad.mit.edu	37	19	45004353	45004353	+	Translation_Start_Site	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:45004353G>T	ENST00000221327.4	-	0	221				ZNF180_ENST00000592529.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000391956.4_De_novo_Start_OutOfFrame|ZNF180_ENST00000587047.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000586637.1_De_novo_Start_OutOfFrame|ZNF180_ENST00000585514.1_5'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CCGCAGCCCAGGCTGGGCCTG	0.701000											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	76					3.5997e-14	7.87084e-14	0.014323	1	0
NLRP2	55655	broad.mit.edu	37	19	55481573	55481573	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:55481573G>C	ENST00000543010.1	+	2	333	c.190G>C	c.(190-192)Gac>Cac	p.D64H	NLRP2_ENST00000391721.4_Missense_Mutation_p.D64H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D64H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D64H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D64H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D64H|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000538819.1_Missense_Mutation_p.D64H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	64	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACCCATTGTGACAGCTACTG	0.532000													15	74					0	0	0.020292	0	0
RAC1	5879	broad.mit.edu	37	7	6441634	6441634	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:6441634G>A	ENST00000348035.4	+	5	637	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G161S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	142					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CTATCCGCAGGGTCTAGCCAT	0.463000													5	154					0	0	0.014758	0	0
MYADM	91663	broad.mit.edu	37	19	54377153	54377153	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:54377153T>C	ENST00000391769.2	+	3	650	c.370T>C	c.(370-372)Tat>Cat	p.Y124H	MYADM_ENST00000391768.2_Missense_Mutation_p.Y124H|MYADM_ENST00000391770.4_Missense_Mutation_p.Y124H|MYADM_ENST00000391771.1_Missense_Mutation_p.Y124H|MYADM_ENST00000336967.3_Missense_Mutation_p.Y124H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	124	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCCCACCACCTATGTCCAGTT	0.647000													20	129					0	0	0.010504	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101902	11101902	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:11101902G>A	ENST00000358026.2	+	8	1606	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R441H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R441H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R441H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R441H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R441H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	441					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTACAAGCGCAGCAAGCGC	0.632000			"""F, N, Mis"""		NSCLC								4	38					0	0	0.009096	0	0
DAB1	1600	broad.mit.edu	37	1	57611078	57611078	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:57611078A>G	ENST00000371236.2	-	3	355	c.92T>C	c.(91-93)tTg>tCg	p.L31S	DAB1_ENST00000439789.2_Missense_Mutation_p.L31S|DAB1_ENST00000420954.2_Missense_Mutation_p.L31S|DAB1_ENST00000371234.4_Missense_Mutation_p.L31S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.L31S|DAB1_ENST00000414851.2_Missense_Mutation_p.L31S|DAB1_ENST00000371230.1_Missense_Mutation_p.L31S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	31					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCTCTTTATCAAAGTGGCTTC	0.443000													5	47					0	0	0.001168	0	0
DNAJC10	54431	broad.mit.edu	37	2	183627484	183627484	+	Silent	SNP	A	A	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:183627484A>C	ENST00000264065.6	+	22	2636	c.2221A>C	c.(2221-2223)Agg>Cgg	p.R741R		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	741	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGCTGGGATCAGGGCCTATCC	0.408000													4	49					0	0	0.009096	0	0
LRRC58	116064	broad.mit.edu	37	3	120053967	120053967	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:120053967G>A	ENST00000295628.3	-	3	744	c.649C>T	c.(649-651)Cta>Tta	p.L217L		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	217										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TGAAGACTTAGGGAACGAAGT	0.348000													4	53					0	0	0.014758	0	0
DOC2A	8448	broad.mit.edu	37	16	30018259	30018259	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:30018259G>A	ENST00000350119.4	-	8	915	c.725C>T	c.(724-726)gCg>gTg	p.A242V	DOC2A_ENST00000564979.1_Missense_Mutation_p.A242V|DOC2A_ENST00000564944.1_Missense_Mutation_p.A242V	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	242	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCCCTGCTCCGCCTGCTCCAA	0.682000													8	22					0	0	0.004482	0	0
GRM3	2913	broad.mit.edu	37	7	86416016	86416016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:86416016G>A	ENST00000361669.2	+	3	2007	c.908G>A	c.(907-909)tGg>tAg	p.W303*	GRM3_ENST00000439827.1_Nonsense_Mutation_p.W303*|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.W175*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.W301*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	303					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGACGGCTGGGGCGCGCAG	0.687000													9	38					0	0	0.006214	0	0
CTNND1	1500	broad.mit.edu	37	11	57582974	57582974	+	Splice_Site	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:57582974T>C	ENST00000524630.1	+	18	3303		c.e18+2		CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCCTTGATGGTAAATTCTCTT	0.413000													3	20					0	0	0.004672	0	0
ANO3	63982	broad.mit.edu	37	11	26529781	26529781	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:26529781G>A	ENST00000256737.3	+	5	1415	c.563G>A	c.(562-564)aGa>aAa	p.R188K	ANO3_ENST00000531568.1_Missense_Mutation_p.R42K|ANO3_ENST00000537978.1_Missense_Mutation_p.R172K|ANO3_ENST00000531646.1_Missense_Mutation_p.R188K|ANO3_ENST00000525139.1_Missense_Mutation_p.R172K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	188						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGAACCTCAGAGCAGAAGGC	0.318000													7	43					0	0	0.003080	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792153	11792153	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:11792153G>A	ENST00000356957.3	-	8	1123	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T312I			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	339					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTCTCAGCTGTGTAGTTCAG	0.552000													12	34					0	0	0.013537	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209865	140209865	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140209865G>A	ENST00000529310.1	+	1	2303	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCGAGGGCGCGTGCACG	0.682000													31	55					0	0	0.008361	0	0
CHD6	84181	broad.mit.edu	37	20	40162087	40162087	+	Silent	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:40162087A>G	ENST00000373233.3	-	3	333	c.156T>C	c.(154-156)gcT>gcC	p.A52A	CHD6_ENST00000373222.3_Silent_p.A87A|CHD6_ENST00000309279.7_Silent_p.A52A	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	52					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GACAGTGACTAGCAACATCTT	0.448000													53	91					0	0	0.014410	0	0
SNRPB2	6629	broad.mit.edu	37	20	16721614	16721614	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:16721614G>A	ENST00000246071.6	+	7	858	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNRPB2_ENST00000377943.5_Silent_p.P214P	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	214	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AGATCACACCGTCCCATGCTA	0.413000													8	63					0	0	0.006214	0	0
FAM155A	728215	broad.mit.edu	37	13	108518140	108518140	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:108518140G>T	ENST00000375915.2	-	1	943	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	269						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCATAGTCCTGGTAAGCCTCG	0.522000													22	119					2.52088e-20	5.78158e-20	0.016522	1	0
KCNH5	27133	broad.mit.edu	37	14	63269189	63269189	+	Silent	SNP	G	G	T	rs114074278	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:63269189G>T	ENST00000322893.7	-	9	1948	c.1680C>A	c.(1678-1680)cgC>cgA	p.R560R	KCNH5_ENST00000394968.1_Silent_p.R502R|KCNH5_ENST00000420622.2_Silent_p.R560R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGCCAAGGCGCGCAGACACC	0.507000													11	89					1.58986e-06	3.21016e-06	0.008291	1	0
RPTN	126638	broad.mit.edu	37	1	152128610	152128610	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:152128610G>A	ENST00000316073.3	-	3	1029	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	322	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGTCTGTCCGTCTGACTGTA	0.498000													13	916					0	0	0.010729	0	0
SLC26A7	115111	broad.mit.edu	37	8	92401664	92401664	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:92401664G>A	ENST00000276609.3	+	16	2013	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	SLC26A7_ENST00000309536.2_Missense_Mutation_p.E592K|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E592K|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	592	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CATGCTTGTTGAGGTATTTAT	0.413000													57	107					0	0	0.014410	0	0
COL24A1	255631	broad.mit.edu	37	1	86529426	86529426	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:86529426G>C	ENST00000370571.2	-	8	2090	c.1724C>G	c.(1723-1725)cCt>cGt	p.P575R	COL24A1_ENST00000436319.1_Missense_Mutation_p.P575R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	575	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGAGTCCAGGATGTCCTTT	0.383000													20	103					0	0	0.021523	0	0
LRRC56	115399	broad.mit.edu	37	11	554064	554064	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:554064C>A	ENST00000270115.7	+	14	1917	c.1417C>A	c.(1417-1419)Cag>Aag	p.Q473K		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	473										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAGACCTGCAGTCCAGGGG	0.701000													17	96					9.16793e-09	1.8965e-08	0.004990	1	0
IGHG4	3503	broad.mit.edu	37	14	106091381	106091381	+	RNA	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:106091381C>T	ENST00000390543.2	-	0	512																											GCTCCTCCCGCGGCTTTGTCT	0.597000													38	251					0	0	0.008740	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569563	2569563	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:2569563C>T	ENST00000330398.4	+	3	519	c.285C>T	c.(283-285)gcC>gcT	p.A95A	ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.A52A|ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Silent_p.A52A|RP11-20I23.1_ENST00000564543.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	95					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				AGCTGGGCGCCGGCCTGAGCG	0.701000													19	39					0	0	0.007413	0	0
SETD1A	9739	broad.mit.edu	37	16	30995053	30995053	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:30995053A>C	ENST00000262519.8	+	18	5596	c.4910A>C	c.(4909-4911)aAg>aCg	p.K1637T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1637	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGCCACCAAGTGTGGCAAC	0.652000													10	37					0	0	0.006214	0	0
ADARB2	105	broad.mit.edu	37	10	1405839	1405839	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:1405839G>T	ENST00000381312.1	-	3	786	c.461C>A	c.(460-462)cCg>cAg	p.P154Q		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	154	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGCGAAGACCGGGGCATGCAC	0.692000													3	28					0.00024832	0.000482908	0.009096	1	0
TMC7	79905	broad.mit.edu	37	16	19058454	19058454	+	Silent	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:19058454T>C	ENST00000421369.3	+	12	1851	c.1293T>C	c.(1291-1293)ccT>ccC	p.P431P	TMC7_ENST00000569532.1_Silent_p.P541P|TMC7_ENST00000304381.5_Silent_p.P541P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	541						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGCCATTCCTGATAACGTCC	0.498000													5	335					0	0	0.001168	0	0
ZNF117	51351	broad.mit.edu	37	7	64438853	64438853	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:64438853A>T	ENST00000282869.5	-	4	2380	c.1096T>A	c.(1096-1098)Tgt>Agt	p.C366S		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GCTTTGCCACATTCTCCACAT	0.398000													11	65					0	0	0.008291	0	0
MYT1L	23040	broad.mit.edu	37	2	1921066	1921066	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:1921066C>A	ENST00000399161.2	-	11	2276	c.1529G>T	c.(1528-1530)gGg>gTg	p.G510V	MYT1L_ENST00000428368.2_Missense_Mutation_p.G508V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	510					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCATCACACCCGGGGGTTGG	0.507000													54	104					1.86277e-20	4.29557e-20	0.014410	1	0
H2BFWT	158983	broad.mit.edu	37	X	103268089	103268089	+	Silent	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:103268089T>C	ENST00000217926.5	-	1	170	c.144A>G	c.(142-144)aaA>aaG	p.K48K		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	48					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGTTGGCCTCTTTGGGCTCCT	0.627000													7	10					0	0	0.001984	0	0
FUT9	10690	broad.mit.edu	37	6	96651372	96651372	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:96651372G>C	ENST00000302103.5	+	3	667	c.341G>C	c.(340-342)aGt>aCt	p.S114T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	114					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CGAGACATCAGTTGGGATCTG	0.473000													6	54					0	0	0.001168	0	0
CNTROB	116840	broad.mit.edu	37	17	7847811	7847811	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:7847811C>T	ENST00000380262.3	+	12	2514	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	CNTROB_ENST00000563694.1_Missense_Mutation_p.A530V|CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Missense_Mutation_p.A530V	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	530	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CGGGAGCAAGCGCGAGTGTGC	0.567000													5	30					0	0	0.014758	0	0
TLN2	83660	broad.mit.edu	37	15	62939593	62939593	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr15:62939593C>G	ENST00000561311.1	+	3	314	c.84C>G	c.(82-84)taC>taG	p.Y28*	TLN2_ENST00000306829.6_Nonsense_Mutation_p.Y28*			Q9Y4G6	TLN2_HUMAN	talin 2	28					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGTGTACGATGCGTGTC	0.488000													19	119					0	0	0.007413	0	0
TM4SF4	7104	broad.mit.edu	37	3	149216509	149216509	+	Splice_Site	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:149216509G>C	ENST00000305354.4	+	4	1306	c.401_splice	c.e4-1	p.G134_splice		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	134						integral to membrane		p.G134G(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCAACAGGGATTATCTCA	0.448000													4	35					0	0	0.014758	0	0
ASTE1	28990	broad.mit.edu	37	3	130742943	130742943	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:130742943C>A	ENST00000264992.3	-	3	1649	c.1208G>T	c.(1207-1209)aGt>aTt	p.S403I	ASTE1_ENST00000514044.1_Missense_Mutation_p.S403I	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	403					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCCACTTCACTGAAAGCTAG	0.428000													48	106					6.7651e-33	1.57728e-32	0.014410	1	0
WHSC1	7468	broad.mit.edu	37	4	1955057	1955057	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:1955057A>T	ENST00000382895.3	+	14	2575	c.2144A>T	c.(2143-2145)cAc>cTc	p.H715L	WHSC1_ENST00000508803.1_Missense_Mutation_p.H715L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.H63L|WHSC1_ENST00000382891.5_Missense_Mutation_p.H715L|WHSC1_ENST00000382892.2_Missense_Mutation_p.H715L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	715					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTAGGGATTCACTCATGTTTC	0.403000			T	IGH@	MM								10	87					0	0	0.006214	0	0
FCRL6	343413	broad.mit.edu	37	1	159785428	159785428	+	Missense_Mutation	SNP	G	G	A	rs146779081	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:159785428G>A	ENST00000368106.3	+	10	1283	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	FCRL6_ENST00000339348.5_3'UTR|FCRL6_ENST00000321935.6_3'UTR	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	428						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACCCCTTAGCGACTGTGAGGA	0.547000													10	46					0	0	0.010729	0	0
ARHGAP6	395	broad.mit.edu	37	X	11207007	11207007	+	Silent	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:11207007T>C	ENST00000337414.4	-	4	1790	c.918A>G	c.(916-918)aaA>aaG	p.K306K	ARHGAP6_ENST00000303025.6_Silent_p.K103K|ARHGAP6_ENST00000413512.3_Silent_p.K115K|ARHGAP6_ENST00000380718.1_Silent_p.K306K|ARHGAP6_ENST00000380732.3_Silent_p.K338K|ARHGAP6_ENST00000534860.1_Silent_p.K131K|ARHGAP6_ENST00000380736.1_Silent_p.K103K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	306					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGATGCATCTTTCTGCTCGT	0.453000													11	18					0	0	0.020292	0	0
THEM5	284486	broad.mit.edu	37	1	151824868	151824868	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:151824868G>A	ENST00000368817.5	-	2	322	c.191C>T	c.(190-192)tCg>tTg	p.S64L		NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	64							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCATGTCCGAACACCAGCT	0.493000													20	117					0	0	0.010504	0	0
POTEH	23784	broad.mit.edu	37	22	16267042	16267042	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:16267042G>T	ENST00000343518.6	-	9	1458	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	469										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTTAGTCAGGTTTTCTGGGA	0.403000													24	570					6.36457e-07	1.29751e-06	0.021523	1	0
ACTN4	81	broad.mit.edu	37	19	39191741	39191741	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:39191741T>A	ENST00000252699.2	+	3	453	c.377T>A	c.(376-378)cTg>cAg	p.L126Q	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	126	Actin-binding.|CH 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCGTCAAGCTGGTCTCCATC	0.557000													21	51					0	0	0.012319	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346785	140346785	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140346785C>G	ENST00000289269.5	+	1	966	c.434C>G	c.(433-435)tCa>tGa	p.S145*	PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		145	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACTCACCGCGTTTC	0.632000													8	29					0	0	0.003080	0	0
HERC6	55008	broad.mit.edu	37	4	89318075	89318075	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:89318075C>A	ENST00000380265.5	+	7	1143	c.960C>A	c.(958-960)agC>agA	p.S320R	HERC6_ENST00000273960.3_Intron|HERC6_ENST00000264346.7_Missense_Mutation_p.S320R	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	320					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTGACACAAGCAAGCCAACTC	0.453000													7	141					0.00307968	0.0058019	0.003080	1	0
CDK8	1024	broad.mit.edu	37	13	26971342	26971342	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:26971342G>A	ENST00000381527.3	+	9	1416	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	305	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTTAAACCAGATAGTAAAGC	0.318000													10	32					0	0	0.006214	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													9	40					0	0	0.008291	0	0
CDC14B	8555	broad.mit.edu	37	9	99329078	99329078	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:99329078C>T	ENST00000375242.3	-	1	458	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CDC14B_ENST00000375240.3_Intron|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375241.1_Intron|CDC14B_ENST00000375236.1_Intron	NM_001077181.1	NP_001070649.1	O60729	CC14B_HUMAN	cell division cycle 14B	0					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCAAAGCTGCCCCCGCGCCCT	0.731000													7	8					0	0	0.001984	0	0
GTF3C1	2975	broad.mit.edu	37	16	27549582	27549582	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:27549582A>T	ENST00000356183.4	-	3	542	c.527T>A	c.(526-528)tTc>tAc	p.F176Y	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F176Y	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	176						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCAGTAGGAGAAGTCGGGCAG	0.602000													16	93					0	0	0.003163	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666696	50666696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:50666696G>A	ENST00000371824.1	+	7	1204	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ELAVL4_ENST00000371821.1_Missense_Mutation_p.R335H|ELAVL4_ENST00000371823.4_Missense_Mutation_p.R330H|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R316H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R321H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R333H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R319H			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AAGGTGATTCGTGACTTCAAC	0.542000													10	68					0	0	0.010729	0	0
PXDNL	137902	broad.mit.edu	37	8	52284568	52284568	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:52284568C>A	ENST00000356297.4	-	19	3866	c.3766G>T	c.(3766-3768)Gtg>Ttg	p.V1256L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1256L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1256					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCACAAAGCACCCGGCTCAGG	0.488000													18	17					3.52763e-06	7.05526e-06	0.004990	1	0
CPS1	1373	broad.mit.edu	37	2	211502448	211502448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:211502448C>G	ENST00000233072.5	+	22	2906	c.2710C>G	c.(2710-2712)Ctg>Gtg	p.L904V	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.L910V|CPS1_ENST00000451903.2_Missense_Mutation_p.L453V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	904					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGAAGAAACCCTGAAAAGGGC	0.398000													7	39					0	0	0.001984	0	0
UROC1	131669	broad.mit.edu	37	3	126220060	126220060	+	Splice_Site	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:126220060C>T	ENST00000290868.2	-	10	1019		c.e10+1		UROC1_ENST00000383579.3_Splice_Site	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCCCACTCACCAAAGAGCCA	0.562000													29	282					0	0	0.012213	0	0
AKT3	10000	broad.mit.edu	37	1	243708856	243708856	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:243708856T>C	ENST00000366539.1	-	12	1407	c.1207A>G	c.(1207-1209)Agt>Ggt	p.S403G	AKT3_ENST00000336199.5_Missense_Mutation_p.S403G|AKT3_ENST00000366540.1_Missense_Mutation_p.S403G|RP11-269F20.1_ENST00000439849.1_RNA|AKT3_ENST00000263826.5_Missense_Mutation_p.S403G			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	403	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAGAAGAAACTGTGTCTCATA	0.328000													8	54					0	0	0.006214	0	0
ACBD5	91452	broad.mit.edu	37	10	27493384	27493384	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:27493384T>C	ENST00000396271.3	-	12	1676	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Y482C|ACBD5_ENST00000375901.1_Missense_Mutation_p.Y408C|ACBD5_ENST00000375897.3_Missense_Mutation_p.Y340C|ACBD5_ENST00000375888.1_Missense_Mutation_p.Y526C	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	526					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTTCTTTGATAGTATAAATA	0.413000													6	32					0	0	0.001984	0	0
OSMR	9180	broad.mit.edu	37	5	38933399	38933399	+	Silent	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:38933399T>C	ENST00000274276.3	+	18	3195	c.2793T>C	c.(2791-2793)agT>agC	p.S931S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	931					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACAAGGACAGTCTCCCAACAA	0.483000													19	171					0	0	0.012319	0	0
SALL3	27164	broad.mit.edu	37	18	76757094	76757094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:76757094G>A	ENST00000536229.3	+	3	3769	c.3060G>A	c.(3058-3060)atG>atA	p.M1020I	SALL3_ENST00000575389.2_Missense_Mutation_p.M1153I|SALL3_ENST00000537592.2_Missense_Mutation_p.M1225I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCTCGCCATGAAGAACAACG	0.602000													35	166					0	0	0.017118	0	0
ADH4	127	broad.mit.edu	37	4	100062731	100062731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:100062731C>T	ENST00000508393.1	-	4	445	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ADH4_ENST00000265512.7_Missense_Mutation_p.V75M|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V94M|ADH4_ENST00000423445.1_Missense_Mutation_p.V94M			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	75					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATACTTTCCACAATACCTGCA	0.403000													5	24					0	0	0.014758	0	0
EPRS	2058	broad.mit.edu	37	1	220153465	220153465	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:220153465T>C	ENST00000366923.3	-	26	3942	c.3673A>G	c.(3673-3675)Ata>Gta	p.I1225V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1225	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATGCTTCTATTGTAGTTGTA	0.408000													11	118					0	0	0.008291	0	0
GIGYF2	26058	broad.mit.edu	37	2	233680442	233680442	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:233680442G>T	ENST00000373566.3	+	20	2466	c.2269G>T	c.(2269-2271)Gca>Tca	p.A757S	GIGYF2_ENST00000452341.2_Missense_Mutation_p.A566S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A757S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.A735S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A756S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A729S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A735S			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	735	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGCCAAAGCTGCAAAGGTCTG	0.478000													3	29					0.004672	0.0087626	0.004672	1	0
COL25A1	84570	broad.mit.edu	37	4	110222987	110222987	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:110222987G>A	ENST00000399132.1	-	2	719	c.189C>T	c.(187-189)atC>atT	p.I63I	COL25A1_ENST00000399127.1_Silent_p.I63I|COL25A1_ENST00000399126.1_Silent_p.I63I	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	63						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGAGAGCGGCGATCCTCGCCT	0.607000													11	74					0	0	0.008291	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	43					0	0	0.001168	0	0
THSD7A	221981	broad.mit.edu	37	7	11485699	11485699	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:11485699C>A	ENST00000423059.3	-	13	3304	c.3053G>T	c.(3052-3054)tGt>tTt	p.C1018F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1018	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGCTGTTACATCTAGATGT	0.423000										HNSCC(18;0.044)			89	168					3.10062e-51	7.26924e-51	0.014410	1	0
SETD6	79918	broad.mit.edu	37	16	58552440	58552440	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:58552440C>T	ENST00000394266.4	+	8	958	c.902C>T	c.(901-903)aCa>aTa	p.T301I	SETD6_ENST00000219315.4_Missense_Mutation_p.T370I|SETD6_ENST00000310682.2_Missense_Mutation_p.T346I			Q8TBK2	SETD6_HUMAN	SET domain containing 6	370					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGACCACCACACTAAAGGTA	0.443000													8	55					0	0	0.003080	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359477	70359477	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:70359477G>T	ENST00000305107.6	-	2	850	c.804C>A	c.(802-804)caC>caA	p.H268Q	UGT2B4_ENST00000381096.3_Missense_Mutation_p.H132Q|UGT2B4_ENST00000512583.1_Missense_Mutation_p.H268Q|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	268					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTAAGAGTGGGTGAGGAAATT	0.423000													40	88					4.32679e-17	9.66088e-17	0.006999	1	0
PIWIL4	143689	broad.mit.edu	37	11	94341767	94341767	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:94341767G>A	ENST00000299001.6	+	15	2069	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	620	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTGATGGTGGTCGGTATTGA	0.388000													33	102					0	0	0.015359	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822059	43822059	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:43822059G>A	ENST00000389420.3	-	26	3929	c.3930C>T	c.(3928-3930)acC>acT	p.T1310T	ADAMTS20_ENST00000395541.2_Silent_p.T428T|ADAMTS20_ENST00000553158.1_Silent_p.T1310T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1310	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCGGTTCTCCACT	0.358000													10	92					0	0	0.008291	0	0
SIM1	6492	broad.mit.edu	37	6	100895160	100895160	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:100895160C>T	ENST00000369208.3	-	9	1764	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	SIM1_ENST00000262901.4_Missense_Mutation_p.V328I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	328	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACATAGTTGACGCTGACGATA	0.627000													4	31					0	0	0.009096	0	0
SYNE2	23224	broad.mit.edu	37	14	64496701	64496701	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:64496701T>C	ENST00000358025.3	+	44	7033	c.6803T>C	c.(6802-6804)tTc>tCc	p.F2268S	SYNE2_ENST00000344113.4_Missense_Mutation_p.F2268S|SYNE2_ENST00000554584.1_Missense_Mutation_p.F2268S|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2268					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGACAATTTCTCCAAGGAA	0.408000													3	35					0	0	0.004672	0	0
ASAH2	56624	broad.mit.edu	37	10	52005019	52005019	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:52005019C>T	ENST00000395526.3	-	2	322	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ASAH2_ENST00000447815.1_Missense_Mutation_p.R108Q|ASAH2_ENST00000329428.6_Missense_Mutation_p.R89Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	108					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GCAGTCAGCTCGTCCAACACC	0.448000													34	210					0	0	0.005524	0	0
APOB	338	broad.mit.edu	37	2	21239357	21239357	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:21239357T>C	ENST00000233242.1	-	21	3413	c.3286A>G	c.(3286-3288)Att>Gtt	p.I1096V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1096					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTTCTGAATGTCCAGGGTG	0.478000													6	46					0	0	0.001984	0	0
EXOC4	60412	broad.mit.edu	37	7	133160110	133160110	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:133160110A>T	ENST00000253861.4	+	8	1240	c.1211A>T	c.(1210-1212)aAa>aTa	p.K404I	EXOC4_ENST00000539845.1_Missense_Mutation_p.K303I|EXOC4_ENST00000393161.2_Missense_Mutation_p.K404I	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	404					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTGGATATGAAAAATACTCGT	0.363000													10	99					0	0	0.008291	0	0
ITPR3	3710	broad.mit.edu	37	6	33653966	33653966	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:33653966G>A	ENST00000374316.5	+	43	6864	c.5804G>A	c.(5803-5805)gGc>gAc	p.G1935D	ITPR3_ENST00000605930.1_Missense_Mutation_p.G1935D			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1935					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACAACGTGGGCCTCGTCATC	0.612000													6	22					0	0	0.001168	0	0
GH2	2689	broad.mit.edu	37	17	61957943	61957943	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:61957943C>T	ENST00000332800.7	-	4	778	c.645G>A	c.(643-645)atG>atA	p.M215I	GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTCTCTCATTCATCCATTTTC	0.562000													12	84					0	0	0.016723	0	0
AGO2	27161	broad.mit.edu	37	8	141570572	141570572	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:141570572C>T	ENST00000220592.5	-	5	668	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	AGO2_ENST00000519980.1_Missense_Mutation_p.E186K	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GAGCAGCCTTCGGACGCGGTG	0.597000													46	78					0	0	0.014410	0	0
CELSR1	9620	broad.mit.edu	37	22	46859980	46859980	+	Silent	SNP	G	G	A	rs148297929	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:46859980G>A	ENST00000262738.3	-	2	3806	c.3807C>T	c.(3805-3807)ggC>ggT	p.G1269G	CELSR1_ENST00000395964.1_Silent_p.G1269G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1269					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCGCGGACGCCGCCAGGCA	0.632000													6	48					0	0	0.001168	0	0
OR51V1	283111	broad.mit.edu	37	11	5221490	5221490	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:5221490A>C	ENST00000321255.1	-	1	440	c.441T>G	c.(439-441)aaT>aaG	p.N147K		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTCTGGAATTAGTCAGGA	0.398000													6	47					0	0	0.001168	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109371	145109371	+	RNA	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:145109371G>T	ENST00000401237.1	-	0	19					NR_030581.1																						AGTGGCTCAGGTTCGTTGCAA	0.383000													6	14					0.00116845	0.0022211	0.001168	1	0
ASIC2	40	broad.mit.edu	37	17	32483155	32483155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:32483155C>T	ENST00000359872.6	-	1	1158	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	133					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCTCCAGCACGGAGGGGTCA	0.612000													14	97					0	0	0.020292	0	0
GYPC	2995	broad.mit.edu	37	2	127451474	127451474	+	Silent	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:127451474C>A	ENST00000259254.4	+	3	472	c.141C>A	c.(139-141)ggC>ggA	p.G47G	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Silent_p.G28G|GYPC_ENST00000356887.7_Silent_p.G26G	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	47						cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		GGCCGGATGGCAGAATGGAGA	0.562000													9	84					0.000274275	0.000528512	0.004482	1	0
PARP12	64761	broad.mit.edu	37	7	139724438	139724438	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:139724438C>T	ENST00000263549.3	-	12	2901	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	676	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGGTGGTGTACTGGATGACAT	0.572000													10	52					0	0	0.006214	0	0
VPS13D	55187	broad.mit.edu	37	1	12326995	12326995	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:12326995G>A	ENST00000358136.3	+	14	1782	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R551Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	551					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTTCAGTCCGGTTGGGTGGA	0.388000													16	35					0	0	0.006122	0	0
TSKS	60385	broad.mit.edu	37	19	50250010	50250010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:50250010G>A	ENST00000246801.3	-	6	791	c.709C>T	c.(709-711)Cga>Tga	p.R237*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R37*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	237							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tcctgccgtcgcggcgtctca	0.677000													6	34					0	0	0.003080	0	0
ERCC5	2073	broad.mit.edu	37	13	103518238	103518238	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:103518238C>T	ENST00000355739.4	+	9	3599	c.2176C>T	c.(2176-2178)Cat>Tat	p.H726Y	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P1151L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGATTCGCTCCATGAATGGCA	0.483000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	48					0	0	0.006214	0	0
SBK2	646643	broad.mit.edu	37	19	56047567	56047567	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56047567A>T	ENST00000413299.1	-	2	132	c.95T>A	c.(94-96)cTc>cAc	p.L32H	SBK2_ENST00000344158.3_Missense_Mutation_p.L32H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	32							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCTGCTGGAGCTCCTCTAA	0.667000													4	38					0	0	0.009096	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652267	115652267	+	Missense_Mutation	SNP	G	G	A	rs140881150		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:115652267G>A	ENST00000374228.4	-	1	926	c.695C>T	c.(694-696)tCg>tTg	p.S232L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	232						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TTTGGCCACCGACTCAGGGAC	0.607000													13	41					0	0	0.013537	0	0
PXDNL	137902	broad.mit.edu	37	8	52284569	52284569	+	Silent	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:52284569C>A	ENST00000356297.4	-	19	3865	c.3765G>T	c.(3763-3765)cgG>cgT	p.R1255R	PXDNL_ENST00000543296.1_Silent_p.R1255R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1255					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAAAGCACCCGGCTCAGGG	0.493000													17	19					3.45872e-05	6.85248e-05	0.004007	1	0
ZG16B	124220	broad.mit.edu	37	16	2880774	2880774	+	Silent	SNP	T	T	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:2880774T>G	ENST00000382280.3	+	3	319	c.240T>G	c.(238-240)tcT>tcG	p.S80S	ZG16B_ENST00000572863.1_Silent_p.S50S	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	80						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGCGGGTGTCTGTAGGTCTTC	0.547000													35	115					0	0	0.015359	0	0
ATAD2B	54454	broad.mit.edu	37	2	24011485	24011485	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:24011485C>A	ENST00000238789.5	-	20	3016	c.2673G>T	c.(2671-2673)gaG>gaT	p.E891D	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	891							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATACAAGACCTCTTCATACT	0.313000													13	22					0.00136819	0.00258914	0.013537	1	0
UNC5B	219699	broad.mit.edu	37	10	73057778	73057778	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:73057778A>G	ENST00000335350.6	+	16	3019	c.2603A>G	c.(2602-2604)aAc>aGc	p.N868S	UNC5B_ENST00000373192.4_Missense_Mutation_p.N857S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	868	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGATATGCAACAGCCTAGAT	0.572000													8	55					0	0	0.003080	0	0
NBAS	51594	broad.mit.edu	37	2	15417199	15417199	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:15417199C>G	ENST00000281513.5	-	43	5190	c.5165G>C	c.(5164-5166)aGa>aCa	p.R1722T	NBAS_ENST00000441750.1_Missense_Mutation_p.R1602T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1722										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTTGGGCTCTATTTTCAAT	0.358000													4	30					0	0	0.014758	0	0
ZNF318	24149	broad.mit.edu	37	6	43304974	43304974	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:43304974C>T	ENST00000361428.2	-	10	6839	c.6762G>A	c.(6760-6762)atG>atA	p.M2254I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2254					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCTGAGGGACCATATTGTCTT	0.463000													15	30					0	0	0.020292	0	0
OR5M11	219487	broad.mit.edu	37	11	56310671	56310671	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:56310671C>T	ENST00000528616.2	-	1	86	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACTGGAGTTCCGGGCAATCTG	0.458000													10	110					0	0	0.006214	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738231	154738231	+	Silent	SNP	T	T	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:154738231T>G	ENST00000404141.1	-	19	3278	c.3124A>C	c.(3124-3126)Aga>Cga	p.R1042R	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.R1042R			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1042	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCTATGCCTCTGGCAAAATAT	0.413000													3	46					0	0	0.004672	0	0
VNN3	55350	broad.mit.edu	37	6	133050063	133050063	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:133050063G>A	ENST00000367927.5	-	3	426	c.354C>T	c.(352-354)aaC>aaT	p.N118N	VNN3_ENST00000417437.2_Intron|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000580813.1_5'UTR|VNN3_ENST00000207771.3_Silent_p.N118N|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000427187.2_Silent_p.N118N|VNN3_ENST00000414302.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GCACTGGTGTGTTGCCGAATC	0.413000													42	65					0	0	0.006999	0	0
COL1A1	1277	broad.mit.edu	37	17	48263006	48263006	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:48263006G>A	ENST00000225964.5	-	51	4370	c.4252C>T	c.(4252-4254)Cac>Tac	p.H1418Y		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1418	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCTCCGGTGTGACTCTGGGGT	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						8	40					0	0	0.004482	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38615682	38615682	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:38615682T>C	ENST00000399703.5	-	3	778	c.404A>G	c.(403-405)aAc>aGc	p.N135S		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	135										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						GAGAGCAGTGTTGCCGTAGAT	0.453000													13	23					0	0	0.013537	0	0
VSIG10	54621	broad.mit.edu	37	12	118517157	118517157	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:118517157G>T	ENST00000359236.5	-	4	1195	c.919C>A	c.(919-921)Cag>Aag	p.Q307K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	307	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCACTGATCTGCACCATGCAG	0.517000													6	64					2.0095e-06	4.03813e-06	0.001984	1	0
MCCC2	64087	broad.mit.edu	37	5	70898414	70898414	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:70898414G>A	ENST00000340941.6	+	5	594	c.465G>A	c.(463-465)cgG>cgA	p.R155R	MCCC2_ENST00000323375.8_Silent_p.R155R|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Silent_p.R155R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	155	Carboxyltransferase.		R -> Q (in MCC2 deficiency; mild form).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AACAATTACGGGCCCAAGAAA	0.418000													5	43					0	0	0.003080	0	0
MAPK10	5602	broad.mit.edu	37	4	86988972	86988972	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:86988972G>C	ENST00000395169.3	-	10	1545	c.825C>G	c.(823-825)ttC>ttG	p.F275L	MAPK10_ENST00000395157.3_Missense_Mutation_p.F168L|MAPK10_ENST00000395161.2_Missense_Mutation_p.F313L|MAPK10_ENST00000395166.1_Missense_Mutation_p.F275L|MAPK10_ENST00000449047.2_Missense_Mutation_p.F168L|MAPK10_ENST00000395160.3_Missense_Mutation_p.F168L|MAPK10_ENST00000359221.3_Missense_Mutation_p.F313L|MAPK10_ENST00000361569.2_Missense_Mutation_p.F313L	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	313	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGGAATCTGGGAAGAGTTTGG	0.488000													10	27					0	0	0.010729	0	0
ACAD10	80724	broad.mit.edu	37	12	112150407	112150407	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:112150407C>T	ENST00000455480.2	+	7	1066	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	ACAD10_ENST00000313698.4_Missense_Mutation_p.P266S|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.P266S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	266							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GATGGAAATTCCGAAAGATTC	0.453000													30	197					0	0	0.009535	0	0
POTEH	23784	broad.mit.edu	37	22	16267041	16267041	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr22:16267041G>A	ENST00000343518.6	-	9	1459	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403000													25	573					0	0	0.021523	0	0
RNF123	63891	broad.mit.edu	37	3	49744294	49744294	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:49744294G>A	ENST00000327697.6	+	26	2603	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	RNF123_ENST00000432042.1_Missense_Mutation_p.R674H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	820						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CACCTGAGCCGCCGTCTTGCC	0.567000													12	45					0	0	0.013537	0	0
DCHS2	54798	broad.mit.edu	37	4	155158157	155158157	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:155158157G>A	ENST00000357232.3	-	25	6281	c.6282C>T	c.(6280-6282)ttC>ttT	p.F2094F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2094	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATTTGACTGTGAATTCAGGGG	0.418000													17	90					0	0	0.004007	0	0
OR2L3	391192	broad.mit.edu	37	1	248224181	248224181	+	Silent	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:248224181C>G	ENST00000359959.3	+	1	198	c.198C>G	c.(196-198)tcC>tcG	p.S66S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTCAGCTCTCCCTCATTGACC	0.423000													39	326					0	0	0.006230	0	0
RAF1	5894	broad.mit.edu	37	3	12653459	12653459	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:12653459C>T	ENST00000251849.4	-	3	749	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Missense_Mutation_p.E104K	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	104	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CCTTTGTGTTCGTGGAGAAGT	0.428000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				49	87					0	0	0.014410	0	0
OR6X1	390260	broad.mit.edu	37	11	123624803	123624803	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:123624803G>T	ENST00000327930.2	-	1	450	c.424C>A	c.(424-426)Ctg>Atg	p.L142M		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTCAGGGCCAGCTGCAGGCAG	0.507000													12	74					6.81908e-15	1.50662e-14	0.020292	1	0
ZNF581	51545	broad.mit.edu	37	19	56156365	56156365	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:56156365G>A	ENST00000587252.1	+	2	701	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	ZNF581_ENST00000270451.5_Missense_Mutation_p.R143Q|ZNF581_ENST00000588537.1_Missense_Mutation_p.R143Q			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGTGGTGGGCGGCCCCACGGC	0.667000													21	104					0	0	0.014323	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240858	26240858	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:26240858G>T	ENST00000377745.2	+	1	298	c.205G>T	c.(205-207)Gac>Tac	p.D69Y		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGTGATACGGGACGCCGTAAC	0.587000													31	27					5.45727e-16	1.21209e-15	0.008361	1	0
TMBIM4	51643	broad.mit.edu	37	12	66531827	66531827	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:66531827G>A	ENST00000358230.3	-	7	750	c.630C>T	c.(628-630)taC>taT	p.Y210Y	TMBIM4_ENST00000286424.7_Silent_p.Y257Y|TMBIM4_ENST00000544599.1_Silent_p.Y33Y|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000542724.1_Silent_p.Y179Y	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	210						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CAGCTAATACGTACTCTTCAG	0.413000													25	47					0	0	0.006320	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57085295	57085295	+	Silent	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:57085295A>G	ENST00000532437.1	-	3	1106	c.795T>C	c.(793-795)gcT>gcC	p.A265A	TNKS1BP1_ENST00000358252.3_Silent_p.A265A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	265	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AACTCACATCAGCAGGTAGCT	0.512000													8	23					0	0	0.003080	0	0
CDH7	1005	broad.mit.edu	37	18	63511243	63511243	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:63511243G>A	ENST00000536984.2	+	7	1871	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	CDH7_ENST00000323011.3_Missense_Mutation_p.G393R|CDH7_ENST00000397968.2_Missense_Mutation_p.G393R			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACCCAGGTTGGGAATATCAT	0.448000													41	75					0	0	0.007835	0	0
CDH6	1004	broad.mit.edu	37	5	31323025	31323025	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:31323025C>T	ENST00000265071.2	+	12	2248	c.1983C>T	c.(1981-1983)gaC>gaT	p.D661D		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTACAACGACGAAGGTGGTG	0.493000													12	66					0	0	0.010729	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574278	136574278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:136574278G>A	ENST00000446465.2	+	2	1604	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.V326I|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	326	DUF6 2.					Golgi apparatus|integral to membrane											TGCTATATGTGTCTGTTCTAC	0.393000													75	189					0	0	0.014410	0	0
ASTN2	23245	broad.mit.edu	37	9	119976974	119976974	+	Silent	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:119976974C>A	ENST00000313400.4	-	3	778	c.678G>T	c.(676-678)gcG>gcT	p.A226A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.A226A|ASTN2_ENST00000373996.3_Silent_p.A226A			O75129	ASTN2_HUMAN	astrotactin 2	226						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGCGTACAGCGCCACGGTGA	0.602000													25	29					4.7796e-09	9.98511e-09	0.004656	1	0
NLRP2	55655	broad.mit.edu	37	19	55494909	55494909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:55494909G>T	ENST00000543010.1	+	6	1986	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E591*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E612*|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E593*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E615*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E593*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E592*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E591*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	615					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCTCAGGAGGAGGAGCTGGT	0.507000													12	30					5.50884e-06	1.09657e-05	0.013537	1	0
N4BP1	9683	broad.mit.edu	37	16	48580115	48580115	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:48580115G>T	ENST00000262384.3	-	6	2512	c.2276C>A	c.(2275-2277)cCt>cAt	p.P759H	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	759					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCTTCCCAGAGGATCATCGGG	0.458000													20	75					2.89027e-11	6.12911e-11	0.014323	1	0
COL11A1	1301	broad.mit.edu	37	1	103491099	103491099	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:103491099C>T	ENST00000358392.2	-	7	1321	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	COL11A1_ENST00000370096.3_Missense_Mutation_p.R323K|COL11A1_ENST00000353414.4_Missense_Mutation_p.R284K|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	323	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAAACATGCCTAGGAGCTTC	0.328000													6	47					0	0	0.001168	0	0
CBLB	868	broad.mit.edu	37	3	105421037	105421037	+	Silent	SNP	T	T	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:105421037T>A	ENST00000264122.4	-	12	2181	c.1860A>T	c.(1858-1860)acA>acT	p.T620T	CBLB_ENST00000405772.1_Silent_p.T620T|CBLB_ENST00000403724.1_Silent_p.T620T|CBLB_ENST00000394027.3_Silent_p.T642T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	620	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGAACTCGCTGTGATTCCAG	0.517000			Mis S		AML								20	100					0	0	0.008871	0	0
TFB1M	51106	broad.mit.edu	37	6	155581464	155581464	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:155581464T>C	ENST00000367166.4	-	6	792	c.737A>G	c.(736-738)gAa>gGa	p.E246G		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AACCACTTTTTCCACCAGCTT	0.438000													3	37					0	0	0.004672	0	0
FAM175A	84142	broad.mit.edu	37	4	84384670	84384670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:84384670C>A	ENST00000321945.7	-	8	881	c.773G>T	c.(772-774)aGa>aTa	p.R258I	FAM175A_ENST00000506553.1_Missense_Mutation_p.R209I|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	258					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTGTGCTCCTCTCCTTTTCTC	0.333000													10	66					7.48243e-07	1.51807e-06	0.006214	1	0
AMY2B	280	broad.mit.edu	37	1	104115869	104115869	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:104115869A>G	ENST00000361355.4	+	5	1116	c.500A>G	c.(499-501)aAt>aGt	p.N167S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	167					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAGAACTACAATGATGCTACT	0.358000													43	352					0	0	0.014410	0	0
DQX1	165545	broad.mit.edu	37	2	74745638	74745638	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:74745638C>T	ENST00000404568.3	-	12	2308	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	DQX1_ENST00000393951.2_Missense_Mutation_p.D697N	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	697						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCTGTAGAATCTGCCATTCCT	0.532000													9	51					0	0	0.004482	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	77					0	0	0.009096	0	0
LEF1	51176	broad.mit.edu	37	4	109088757	109088757	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:109088757G>A	ENST00000379951.2	-	1	1355	c.167C>T	c.(166-168)tCc>tTc	p.S56F	LEF1_ENST00000265165.1_Missense_Mutation_p.S56F|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.S56F	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	56	CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GTTCACCAAGGAAGACTTGAT	0.577000													19	89					0	0	0.007413	0	0
GNG11	2791	broad.mit.edu	37	7	93555441	93555441	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:93555441A>T	ENST00000248564.4	+	2	574	c.135A>T	c.(133-135)gaA>gaT	p.E45D		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	45					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACTATATTGAAGAACGTTCTG	0.348000													22	81					0	0	0.014323	0	0
BMP7	655	broad.mit.edu	37	20	55803477	55803477	+	Splice_Site	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr20:55803477A>G	ENST00000395863.3	-	2	924	c.418_splice	c.e2-1	p.V140_splice	BMP7_ENST00000395864.3_Splice_Site_p.V140_splice|BMP7_ENST00000450594.2_Splice_Site_p.V140_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GTCATGTTCCACTGGAAGAGG	0.512000													3	114					0	0	0.004672	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557499	32557499	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:32557499C>T	ENST00000427288.1	+	7	949	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TMEM39B_ENST00000336294.5_Missense_Mutation_p.R272C|TMEM39B_ENST00000456834.2_Missense_Mutation_p.P220L|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R73C			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	272						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGCCTCATCCGCAGTGAGGT	0.597000													5	49					0	0	0.001168	0	0
SYT4	6860	broad.mit.edu	37	18	40854093	40854093	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:40854093G>T	ENST00000255224.3	-	2	669	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	SYT4_ENST00000590752.1_Missense_Mutation_p.L83I|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	101						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGCCATTGAGATCTCTCTTT	0.398000													12	90					1.36491e-13	2.96903e-13	0.016723	1	0
CFAP54	144535	broad.mit.edu	37	12	97043804	97043804	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:97043804T>C	ENST00000524981.3	+	2	179	c.179T>C	c.(178-180)gTa>gCa	p.V60A				Q6ZTY8	CL063_HUMAN		34										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATTTGTGTGTAATGGATCAT	0.363000													10	52					0	0	0.006214	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453689	84453689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:84453689G>A	ENST00000377084.2	-	1	2839	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	652						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGGCATCTCGTCTCTTGGAC	0.572000													13	47					0	0	0.020292	0	0
CMA1	1215	broad.mit.edu	37	14	24974805	24974805	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr14:24974805G>A	ENST00000250378.3	-	5	690	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CMA1_ENST00000206446.4_Missense_Mutation_p.R110W|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	221	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCATCCGACCGTCCATAGGAT	0.592000													9	62					0	0	0.008291	0	0
KLHL23	151230	broad.mit.edu	37	2	170592711	170592711	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:170592711G>T	ENST00000392647.2	+	2	1431	c.1187G>T	c.(1186-1188)tGg>tTg	p.W396L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.W396L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	396										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						AAAGAGAAATGGATTCCTATT	0.408000													12	104					7.03913e-09	1.46331e-08	0.013537	1	0
NSF	4905	broad.mit.edu	37	17	44770322	44770322	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:44770322C>T	ENST00000398238.4	+	10	1106	c.999C>T	c.(997-999)atC>atT	p.I333I	NSF_ENST00000575068.1_Silent_p.I328I|NSF_ENST00000225282.8_Silent_p.I239I	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	333					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTGATGCCATCTGCAAGCAGA	0.418000													4	28					0	0	0.014758	0	0
MKI67	4288	broad.mit.edu	37	10	129913914	129913914	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:129913914T>G	ENST00000368654.3	-	7	1133	c.758A>C	c.(757-759)cAa>cCa	p.Q253P	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	253					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTTCTTTTTGTGATTTTAC	0.373000													4	55					0	0	0.014758	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486734	20486734	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:20486734C>T	ENST00000573854.1	+	7	1059	c.945C>T	c.(943-945)taC>taT	p.Y315Y	ACSM2A_ENST00000417235.2_Silent_p.Y236Y|ACSM2A_ENST00000536134.1_Silent_p.Y87Y|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.Y315Y|ACSM2A_ENST00000219054.6_Silent_p.Y315Y|ACSM2A_ENST00000396104.2_Silent_p.Y315Y	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	315					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCATTGTTTACCGGATGTTGC	0.512000													26	104					0	0	0.006320	0	0
ELP6	54859	broad.mit.edu	37	3	47552662	47552662	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:47552662G>T	ENST00000296149.4	-	2	279	c.109C>A	c.(109-111)Cac>Aac	p.H37N	ELP6_ENST00000439305.1_5'UTR|ELP6_ENST00000446787.1_5'UTR	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		GAGAGAAAGTGGTGTACAAGG	0.403000													8	51					9.70103e-10	2.03673e-09	0.008291	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572211	140572211	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140572211G>T	ENST00000239446.4	+	1	270	c.86G>T	c.(85-87)gGg>gTg	p.G29V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		29					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTTCTGGGTTTGGACGT	0.502000													22	112					1.1804e-14	2.59441e-14	0.021523	1	0
TAS1R1	80835	broad.mit.edu	37	1	6635143	6635143	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:6635143C>T	ENST00000333172.6	+	3	1144	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.R317R	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	317					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGATCCAGCGCATTGGGATGG	0.642000													10	32					0	0	0.006214	0	0
ESYT1	23344	broad.mit.edu	37	12	56528126	56528126	+	Splice_Site	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:56528126G>A	ENST00000394048.5	+	15	1810	c.1545_splice	c.e15-1	p.A516_splice	ESYT1_ENST00000267113.4_Splice_Site_p.A526_splice|ESYT1_ENST00000541590.1_Splice_Site_p.A526_splice	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	516	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACATCTCCAGGCTGTCTACAG	0.502000													35	104					0	0	0.015359	0	0
ADH1A	124	broad.mit.edu	37	4	100205642	100205642	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:100205642T>C	ENST00000209668.2	-	5	594	c.481A>G	c.(481-483)Att>Gtt	p.I161V	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	161					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GCTGCATCAATTTTGGCTACT	0.493000													9	43					0	0	0.004482	0	0
VPS41	27072	broad.mit.edu	37	7	38765891	38765891	+	Silent	SNP	A	A	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:38765891A>C	ENST00000310301.4	-	29	2574	c.2520T>G	c.(2518-2520)gcT>gcG	p.A840A	VPS41_ENST00000395969.2_Silent_p.A815A	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	840					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CACGGTTCTTAGCACTGCAGA	0.363000													17	24					0	0	0.006122	0	0
UCK1	83549	broad.mit.edu	37	9	134404963	134404963	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:134404963C>G	ENST00000372215.4	-	3	370	c.277G>C	c.(277-279)Gat>Cat	p.D93H	UCK1_ENST00000372210.3_Missense_Mutation_p.D84H|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Missense_Mutation_p.D98H|UCK1_ENST00000372208.3_Missense_Mutation_p.D93H	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	93					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		AAATCATTATCAAAGGCATCT	0.547000													17	91					0	0	0.004007	0	0
C8A	731	broad.mit.edu	37	1	57351627	57351627	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:57351627A>T	ENST00000361249.3	+	7	979	c.883A>T	c.(883-885)Aag>Tag	p.K295*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	295	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATCTTCACAAAGGTGCAGAC	0.368000													20	29					0	0	0.014323	0	0
CAPN15	6650	broad.mit.edu	37	16	596993	596993	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:596993G>A	ENST00000219611.2	+	4	518	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_005632.2	NP_005623.1			calpain 15																		CCCTGCGCCCGCTGCACCTTC	0.692000													5	40					0	0	0.001168	0	0
C1orf177	163747	broad.mit.edu	37	1	55282673	55282673	+	Silent	SNP	T	T	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:55282673T>A	ENST00000358193.3	+	9	1116	c.1062T>A	c.(1060-1062)ggT>ggA	p.G354G	C1orf177_ENST00000371273.3_Silent_p.G354G	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	354										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACCCAGTAGGTGTGGGCCGCT	0.572000													6	40					0	0	0.003080	0	0
CD69	969	broad.mit.edu	37	12	9907188	9907188	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:9907188G>T	ENST00000228434.3	-	4	566	c.486C>A	c.(484-486)aaC>aaA	p.N162K	CD69_ENST00000536709.1_Missense_Mutation_p.N162K	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	162	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTTACCAGTTGTTAAATTCTT	0.413000													38	123					9.80977e-26	2.27457e-25	0.019004	1	0
WRN	7486	broad.mit.edu	37	8	30977861	30977861	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:30977861G>T	ENST00000298139.5	+	21	2800	c.2551G>T	c.(2551-2553)Gag>Tag	p.E851*		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	851	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATATTATCAGGAGATTGGTAG	0.393000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				18	102					3.41278e-10	7.20097e-10	0.004990	1	0
PDXDC1	23042	broad.mit.edu	37	16	15127244	15127244	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr16:15127244G>A	ENST00000396410.4	+	19	1897	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	PDXDC1_ENST00000325823.7_Silent_p.E585E|PDXDC1_ENST00000569715.1_Silent_p.E573E|PDXDC1_ENST00000447912.2_Silent_p.E509E|PDXDC1_ENST00000450288.2_Silent_p.E572E|PDXDC1_ENST00000563679.1_Silent_p.E618E|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	600					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGGAGATAGAGGAGAACTCGA	0.567000													33	101					0	0	0.013726	0	0
GNPAT	8443	broad.mit.edu	37	1	231396372	231396372	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:231396372C>A	ENST00000366647.4	+	3	550	c.381C>A	c.(379-381)agC>agA	p.S127R	GNPAT_ENST00000366646.3_Missense_Mutation_p.S66R	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	127					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCACCCTGAGCAAAGTATTTA	0.363000													29	233					2.85442e-18	6.44152e-18	0.010818	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999914	72999914	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:72999914T>A	ENST00000322038.5	+	2	3001	c.2417T>A	c.(2416-2418)cTg>cAg	p.L806Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.L851Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	851						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAGGCCGCCTGACGCCCAAG	0.602000													9	79					0	0	0.006214	0	0
SEPT7	989	broad.mit.edu	37	7	35930338	35930338	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:35930338C>T	ENST00000494488.2	+	10	891	c.891C>T	c.(889-891)agC>agT	p.S297S	SEPT7_ENST00000350320.6_Silent_p.S310S|SEPT7_ENST00000399035.3_Silent_p.S310S|SEPT7_ENST00000435235.1_Silent_p.S258S|SEPT7_ENST00000399034.2_Silent_p.S312S|SEPT7_ENST00000432293.2_Intron			Q16181	SEPT7_HUMAN	septin 7	311					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						ACTACAGAAGCAGAAAACTTG	0.333000													4	34					0	0	0.009096	0	0
DGKH	160851	broad.mit.edu	37	13	42803280	42803280	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:42803280G>A	ENST00000379274.2	+	31	3688	c.3259G>A	c.(3259-3261)Gga>Aga	p.G1087R	DGKH_ENST00000337343.4_Missense_Mutation_p.G1207R|DGKH_ENST00000261491.4_Missense_Mutation_p.G1163E|DGKH_ENST00000540693.1_Missense_Mutation_p.G1163E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.G1071R|DGKH_ENST00000538674.1_Missense_Mutation_p.G918E			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1207					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTCTCCAGGGAATTAAAGA	0.373000													14	82					0	0	0.020292	0	0
PDE4A	5141	broad.mit.edu	37	19	10570295	10570295	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:10570295C>T	ENST00000380702.2	+	11	1159	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	PDE4A_ENST00000440014.2_Missense_Mutation_p.R348C|PDE4A_ENST00000592685.1_Missense_Mutation_p.R387C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R383C|PDE4A_ENST00000344979.3_Missense_Mutation_p.R170C|PDE4A_ENST00000352831.6_Missense_Mutation_p.R409C			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAGAAATTCCGCATCCCTGT	0.637000													6	39					0	0	0.001168	0	0
WDR5	11091	broad.mit.edu	37	9	137017113	137017113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr9:137017113G>A	ENST00000358625.3	+	9	764	c.593G>A	c.(592-594)tGg>tAg	p.W198*	WDR5_ENST00000425041.1_Nonsense_Mutation_p.W198*	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	198					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AGTCGCATCTGGGACACCGCC	0.557000													17	160					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237659856	237659856	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:237659856G>A	ENST00000366574.2	+	20	2324	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	RYR2_ENST00000542537.1_Silent_p.Q653Q|RYR2_ENST00000360064.6_Silent_p.Q667Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	669	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCTGCTCAGTATAAGAAAT	0.448000													13	59					0	0	0.016723	0	0
SLC4A4	8671	broad.mit.edu	37	4	72423471	72423471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:72423471C>T	ENST00000340595.3	+	19	2870	c.2674C>T	c.(2674-2676)Cag>Tag	p.Q892*	SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.Q936*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.Q852*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.Q936*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	936						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTGAAGCATCAGCCTGACTT	0.507000													15	41					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113241018	113241018	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr8:113241018A>G	ENST00000297405.5	-	70	11175	c.10931T>C	c.(10930-10932)tTt>tCt	p.F3644S	CSMD3_ENST00000343508.3_Missense_Mutation_p.F3604S|CSMD3_ENST00000455883.2_Missense_Mutation_p.F3475S|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3574S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3644						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCCTGCAAATATAAGTGC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	34					0	0	0.005524	0	0
FAM131A	131408	broad.mit.edu	37	3	184059698	184059698	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:184059698G>A	ENST00000310585.4	+	1	1441	c.77G>A	c.(76-78)gGg>gAg	p.G26E	FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000340957.5_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000450976.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	26						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACATGCTGGGGTCTCCCCTT	0.547000													67	127					0	0	0.014410	0	0
CLN5	1203	broad.mit.edu	37	13	77566263	77566263	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr13:77566263C>T	ENST00000377453.3	+	1	1469	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	10					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CGGCACAGGGCGCCGAGATgc	0.746000													7	23					0	0	0.008291	0	0
TRPV5	56302	broad.mit.edu	37	7	142612693	142612693	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:142612693G>A	ENST00000265310.1	-	9	1516	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	390					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATGCTCACCAGCTCCCCCACC	0.547000													5	40					0	0	0.014758	0	0
ARSG	22901	broad.mit.edu	37	17	66381312	66381312	+	Splice_Site	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:66381312A>T	ENST00000448504.2	+	9	1886	c.1091_splice	c.e9+1	p.S364_splice	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Splice_Site_p.S200_splice	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	364					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCCTTGTTAAGGTATGAGAC	0.562000													24	49					0	0	0.014323	0	0
PARP1	142	broad.mit.edu	37	1	226552719	226552719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:226552719G>A	ENST00000366794.5	-	19	2785	c.2642C>T	c.(2641-2643)cCg>cTg	p.P881L	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	881	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CGCTTCAGGCGGGGCTATCCG	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	90					0	0	0.014758	0	0
ZNF625	90589	broad.mit.edu	37	19	12256889	12256889	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:12256889C>T	ENST00000355738.1	-	4	493	c.144G>A	c.(142-144)agG>agA	p.R48R	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Silent_p.R48R|ZNF625_ENST00000439556.2_Silent_p.R114R|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CTCTGTGGTGCCTATTAAGGG	0.443000													17	56					0	0	0.004990	0	0
FMNL2	114793	broad.mit.edu	37	2	153504404	153504404	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:153504404C>T	ENST00000288670.9	+	26	3631	c.3264C>T	c.(3262-3264)gcC>gcT	p.A1088A	FMNL2_ENST00000475377.2_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	0					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTAATGGTGCCGAAATAACAA	0.478000													20	169					0	0	0.007413	0	0
ALS2	57679	broad.mit.edu	37	2	202593826	202593826	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:202593826C>T	ENST00000264276.6	-	14	3033	c.2661G>A	c.(2659-2661)aaG>aaA	p.K887K	ALS2_ENST00000457679.2_Silent_p.K199K	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	887					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATTCTGCTTCCTTCCTTTTCC	0.453000													129	78					0	0	0.014410	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012719	73012719	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:73012719T>G	ENST00000308744.6	+	4	857	c.759T>G	c.(757-759)ttT>ttG	p.F253L	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F154L|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.F151L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	253					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTACCCTTTTAAACCAAAGC	0.388000													13	169					0	0	0.020292	0	0
SMURF2	64750	broad.mit.edu	37	17	62589665	62589665	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:62589665G>A	ENST00000262435.9	-	4	414	c.227C>T	c.(226-228)aCg>aTg	p.T76M	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	76	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TACACTGATCGTAACTGAATC	0.393000													6	64					0	0	0.001168	0	0
LRP1	4035	broad.mit.edu	37	12	57604546	57604546	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:57604546G>A	ENST00000243077.3	+	83	13266	c.12800G>A	c.(12799-12801)tGc>tAc	p.C4267Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4267	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCCCAAATGCACCCAGCAG	0.667000													14	90					0	0	0.016723	0	0
OR2L3	391192	broad.mit.edu	37	1	248223987	248223987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:248223987G>T	ENST00000359959.3	+	1	4	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGCCCCATGGAAAATTACAA	0.408000													30	119					5.77227e-19	1.3167e-18	0.008361	1	0
HSD3B2	3284	broad.mit.edu	37	1	119962178	119962178	+	Missense_Mutation	SNP	G	G	A	rs6211	byFrequency	TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:119962178G>A	ENST00000543831.1	+	3	529	c.280G>A	c.(280-282)Gag>Aag	p.E94K	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.E94K	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	94			E -> Q (in dbSNP:rs6211).	HRE -> RRQ (in Ref. 8; AAD14329).	androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CACTCACAGAGAGTCCATCAT	0.463000													6	56					0	0	0.003080	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314017	42314017	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:42314017G>A	ENST00000357396.3	+	4	798	c.557G>A	c.(556-558)cGt>cAt	p.R186H	CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	186						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AGCATCCAGCGTGACCTCAAG	0.592000													36	295					0	0	0.006230	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066574	9066574	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:9066574C>T	ENST00000382496.5	-	17	2923	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	753	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R753L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGAACAGTACCGCATTTCGAT	0.537000													29	128					0	0	0.009535	0	0
AKAP4	8852	broad.mit.edu	37	X	49957554	49957554	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:49957554G>A	ENST00000376056.2	-	5	1933	c.1783C>T	c.(1783-1785)Cac>Tac	p.H595Y	AKAP4_ENST00000358526.2_Missense_Mutation_p.H604Y|AKAP4_ENST00000376058.2_Missense_Mutation_p.H221Y|AKAP4_ENST00000376064.3_Missense_Mutation_p.H595Y|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	604					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGGGCTCTGTGAGATTCTAGT	0.458000													18	27					0	0	0.004990	0	0
PCDHA1	56147	broad.mit.edu	37	5	140165973	140165973	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:140165973A>C	ENST00000504120.2	+	1	98	c.98A>C	c.(97-99)tAc>tCc	p.Y33S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.Y33S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.Y33S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCCACTACTCGATCCCG	0.652000													12	80					0	0	0.013537	0	0
POM121L12	285877	broad.mit.edu	37	7	53104113	53104113	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:53104113A>T	ENST00000408890.4	+	1	765	c.749A>T	c.(748-750)gAt>gTt	p.D250V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	250										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTTTGTGATGATGCTTGGCCT	0.627000													19	97					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38831662	38831662	+	Silent	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr6:38831662G>T	ENST00000359357.3	+	43	5927	c.5673G>T	c.(5671-5673)tcG>tcT	p.S1891S	DNAH8_ENST00000441566.1_Silent_p.S1891S|DNAH8_ENST00000449981.2_Silent_p.S2108S					dynein, axonemal, heavy chain 8									p.S1891S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGCACAGTCGGGTTCCTGGG	0.358000													10	51					0.00010058	0.000197417	0.013537	1	0
CCDC54	84692	broad.mit.edu	37	3	107096565	107096565	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr3:107096565G>C	ENST00000261058.1	+	1	378	c.131G>C	c.(130-132)gGa>gCa	p.G44A		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	44										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATTCAACTGGATATCCCACT	0.398000													16	94					0	0	0.004007	0	0
HDAC4	9759	broad.mit.edu	37	2	240085518	240085518	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr2:240085518C>T	ENST00000345617.3	-	6	1383	c.592G>A	c.(592-594)Gac>Aac	p.D198N	HDAC4_ENST00000541256.1_Missense_Mutation_p.D167N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	198	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TAGCGAGGGTCGCTGGAAATG	0.562000													22	78					0	0	0.010504	0	0
MGMT	4255	broad.mit.edu	37	10	131565165	131565165	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr10:131565165G>T	ENST00000306010.7	+	5	653	c.621G>T	c.(619-621)ttG>ttT	p.L207F		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	207										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCCACCGGTTGGGGAAGCCAG	0.662000								Direct reversal of damage					8	25					1.06961e-07	2.20184e-07	0.003080	1	0
ATN1	1822	broad.mit.edu	37	12	7048173	7048173	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:7048173C>A	ENST00000356654.4	+	7	3284	c.3047C>A	c.(3046-3048)tCc>tAc	p.S1016Y	ATN1_ENST00000396684.2_Missense_Mutation_p.S1016Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1016					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTGACATGTCCTATGCTGAG	0.667000													23	78					7.92952e-12	1.70727e-11	0.021523	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46388533	46388533	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:46388533A>T	ENST00000302165.3	-	1	843	c.500T>A	c.(499-501)cTg>cAg	p.L167Q		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGCAGCTGCCAGCAGCCCAGG	0.682000													9	61					0	0	0.004482	0	0
DHX37	57647	broad.mit.edu	37	12	125470690	125470690	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:125470690C>T	ENST00000308736.2	-	2	326	c.228G>A	c.(226-228)gaG>gaA	p.E76E		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	76							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCACTTTCTTCTCCTTCTTGG	0.512000													77	114					0	0	0.014410	0	0
KIAA1549	57670	broad.mit.edu	37	7	138583773	138583773	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:138583773G>A	ENST00000440172.1	-	9	3823	c.3775C>T	c.(3775-3777)Ctg>Ttg	p.L1259L	KIAA1549_ENST00000422774.1_Silent_p.L1259L|KIAA1549_ENST00000242365.4_Silent_p.L1209L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1259						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTTAATCAGGTCCGAAGAC	0.493000			O	BRAF	pilocytic astrocytoma								15	133					0	0	0.003163	0	0
SCFD2	152579	broad.mit.edu	37	4	53751945	53751945	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:53751945T>C	ENST00000401642.3	-	8	2064	c.1931A>G	c.(1930-1932)gAt>gGt	p.D644G	SCFD2_ENST00000388940.4_Missense_Mutation_p.D599G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	644					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGCCACAAGATCTTTGACCAT	0.532000													10	87					0	0	0.010729	0	0
ITGB7	3695	broad.mit.edu	37	12	53590515	53590515	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:53590515G>A	ENST00000267082.5	-	6	895	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ITGB7_ENST00000550743.2_Missense_Mutation_p.R222C|ITGB7_ENST00000422257.3_Missense_Mutation_p.R222C|ITGB7_ENST00000338737.4_Missense_Mutation_p.R222C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	222	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACTGGCAGCGCTCCAGCCGG	0.617000													8	15					0	0	0.003080	0	0
ARSI	340075	broad.mit.edu	37	5	149676799	149676799	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:149676799C>T	ENST00000328668.7	-	2	2267	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	563						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACATTAGCCTGGTGTTGAG	0.532000													16	95					0	0	0.004990	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58009058	58009058	+	Silent	SNP	G	G	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:58009058G>A	ENST00000225577.4	+	7	684	c.663G>A	c.(661-663)ccG>ccA	p.P221P	RPS6KB1_ENST00000443572.2_Silent_p.P198P|RPS6KB1_ENST00000393021.3_Silent_p.P168P|RPS6KB1_ENST00000406116.3_Silent_p.P221P	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	221	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACCTGAAGCCGGAGAATATCA	0.388000													7	38					0	0	0.001984	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260231	44260231	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr18:44260231C>T	ENST00000315087.7	-	7	1565	c.905G>A	c.(904-906)gGc>gAc	p.G302D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G338D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G271D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	302					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGAATGAGGCCGGTGCTGAT	0.622000													15	75					0	0	0.020292	0	0
ANO2	57101	broad.mit.edu	37	12	5685021	5685021	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:5685021T>C	ENST00000356134.5	-	25	2674	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	ANO2_ENST00000327087.8_Missense_Mutation_p.D867G|ANO2_ENST00000546188.1_Missense_Mutation_p.D868G	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	872						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AACCTCCTGGTCAAACTGTGA	0.493000													5	40					0	0	0.001168	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407004	55407004	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:55407004G>T	ENST00000341048.4	-	10	1722	c.1571C>A	c.(1570-1572)cCt>cAt	p.P524H	ANKRD55_ENST00000434982.2_Missense_Mutation_p.P236H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.P481H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	523										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTGGTGACCAGGCCGGACACT	0.463000													22	168					2.21704e-12	4.79789e-12	0.016522	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													4	9					0	0	0.014758	0	0
PIAS3	10401	broad.mit.edu	37	1	145581554	145581554	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:145581554A>G	ENST00000393045.2	+	9	1225	c.1135A>G	c.(1135-1137)Atc>Gtc	p.I379V	PIAS3_ENST00000369298.1_Missense_Mutation_p.I344V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	379					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAATCTCTTATCATTGATGG	0.403000													14	89					0	0	0.003163	0	0
SNAP47	116841	broad.mit.edu	37	1	227935683	227935683	+	Silent	SNP	C	C	T			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:227935683C>T	ENST00000366759.4	+	2	795	c.381C>T	c.(379-381)tcC>tcT	p.S127S	SNAP47_ENST00000315781.5_Silent_p.S127S|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGTTCAGCTCCCTGCGGCCAA	0.547000													8	90					0	0	0.004482	0	0
VAT1	10493	broad.mit.edu	37	17	41168533	41168533	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:41168533T>C	ENST00000355653.3	-	5	984	c.889A>G	c.(889-891)Aac>Gac	p.N297D	VAT1_ENST00000420567.3_Missense_Mutation_p.N163D|VAT1_ENST00000587173.1_Missense_Mutation_p.N229D	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	297						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCCATCAGGTTCCGTTTGGGG	0.612000													3	25					0	0	0.004672	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637236	23637241	+	In_Frame_Del	DEL	GGTCCC	GGTCCC	-			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr1:23637236_23637241delGGTCCC	ENST00000478691.1	-	10	1585_1590	c.1314_1319delGGGACC	c.(1312-1320)tta>tt	p.LGP438del	HNRNPR_ENST00000374612.1_In_Frame_Del_p.LGP536del|HNRNPR_ENST00000374616.3_In_Frame_Del_p.LGP539del|HNRNPR_ENST00000302271.6_In_Frame_Del_p.LGP536del|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.LGP498del|HNRNPR_ENST00000426846.2_In_Frame_Del_p.LGP376del|HNRNPR_ENST00000606561.1_In_Frame_Del_p.LGP397del	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	536						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCCTCTTGGTGGTCCCAAAGGTGCCC	0.646													14	75	---	---	---	---					
TBC1D14	57533	broad.mit.edu	37	4	7026838	7026848	+	Frame_Shift_Del	DEL	TCCTGAAGCTG	TCCTGAAGCTG	-			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr4:7026838_7026848delTCCTGAAGCTG	ENST00000409757.4	+	13	1989_1999	c.1865_1875delTCCTGAAGCTG	c.(1864-1875)afs	p.ILKL622fs	TBC1D14_ENST00000448507.1_Frame_Shift_Del_p.ILKL622fs|TBC1D14_ENST00000446947.2_Frame_Shift_Del_p.ILKL269fs|TBC1D14_ENST00000410031.1_Frame_Shift_Del_p.ILKL394fs|TBC1D14_ENST00000451522.2_Frame_Shift_Del_p.ILKL342fs	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	622						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCCCTGGGCATCCTGAAGCTGTTCGAGGACA	0.588													19	88	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													3	6	---	---	---	---					
CADPS2	93664	broad.mit.edu	37	7	122153341	122153341	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr7:122153341delA	ENST00000334010.7	-	9	1925	c.1504delT	c.(1504-1506)ggfs	p.W502fs	CADPS2_ENST00000449022.2_Frame_Shift_Del_p.W502fs|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000313070.7_Frame_Shift_Del_p.W502fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.W502fs	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	502	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATCTTTTCCAAACCTTCTGT	0.323													2	4	---	---	---	---					
B3GAT3	26229	broad.mit.edu	37	11	62388037	62388038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr11:62388037_62388038insG	ENST00000531383.1	-	2	394_395	c.188_189insC	c.(187-189)cgcfs	p.R63fs	B3GAT3_ENST00000265471.5_Frame_Shift_Ins_p.R63fs|B3GAT3_ENST00000534026.1_Frame_Shift_Ins_p.R63fs			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	63					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGGCAGGGGCAGGGGGTGGCCG	0.634													7	44	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	28	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28927411	28927415	+	RNA	DEL	AGGGA	AGGGA	-			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr15:28927411_28927415delAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1																						GTTTAAAAATagggaagggaaggga	0.463													3	3	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA	rs71838018		TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.460													2	4	---	---	---	---					
SLFN5	162394	broad.mit.edu	37	17	33592632	33592633	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr17:33592632_33592633insA	ENST00000299977.4	+	5	2549_2550	c.2401_2402insA	c.(2401-2403)aaafs	p.K801fs	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	801					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGAAGTGGAAAAATATAAA	0.426													16	72	---	---	---	---					
URI1	8725	broad.mit.edu	37	19	30433493	30433494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chr19:30433493_30433494insC	ENST00000542441.2	+	1	336_337	c.39_40insC	c.(37-42)tcccccfs	p.SP13fs	URI1_ENST00000312051.6_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	13					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CCGACCCCTCGCCCCCTTCGGC	0.762													3	6	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53240037	53240038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7367-01A-11D-2012-08	TCGA-CR-7367-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82e34db-7b0e-4bbd-bc42-ba063ac42409	b93dc36c-99c1-4b6d-88c1-97d65bad89d2	g.chrX:53240037_53240038insA	ENST00000452825.3	-	9	1734_1735	c.1202_1203insT	c.(1201-1203)gtafs	p.V401fs	KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.V467fs|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.V468fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.V427fs|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.V468fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	468					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGTAGCATACTCCTGCCAGGT	0.455			"""N, F, S"""		clear cell renal carcinoma								17	33	---	---	---	---