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
SCAF11	9169	broad.mit.edu	37	12	46326990	46326990	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:46326990T>C	ENST00000369367.3	-	9	891	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	SCAF11_ENST00000419565.2_Missense_Mutation_p.I220V|SCAF11_ENST00000549162.1_Missense_Mutation_p.I28V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	220					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AATGCACTGATTTCACTGGCT	0.308000													12	42					0	0	0.001855	0	0
PROX1	5629	broad.mit.edu	37	1	214171226	214171226	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:214171226C>A	ENST00000366958.4	+	2	1956	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	PROX1_ENST00000435016.1_Missense_Mutation_p.Q450K|PROX1_ENST00000498508.2_Missense_Mutation_p.Q450K|PROX1_ENST00000261454.4_Missense_Mutation_p.Q450K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	450					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCTCTGACCAGTCTGCCTC	0.642000													32	71					6.38683e-12	3.53732e-11	0.001512	1	0
OBSCN	84033	broad.mit.edu	37	1	228437860	228437860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:228437860C>T	ENST00000570156.2	+	15	4578	c.4504C>T	c.(4504-4506)Cag>Tag	p.Q1502*	OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1410*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1410*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	480	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTGGTGCAGCAGGCATG	0.647000													41	92					0	0	0.001706	0	0
LIMCH1	22998	broad.mit.edu	37	4	41699182	41699182	+	Missense_Mutation	SNP	G	G	T	rs142431467		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:41699182G>T	ENST00000313860.7	+	27	3286	c.3232G>T	c.(3232-3234)Ggg>Tgg	p.G1078W	LIMCH1_ENST00000512632.1_Missense_Mutation_p.G975W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G1052W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G911W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G1051W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G897W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1462W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G885W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G1064W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G892W|LIMCH1_ENST00000515785.1_3'UTR|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G905W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1078					actomyosin structure organization		actin binding|zinc ion binding	p.G1462R(1)|p.G1078R(1)|p.G1462W(1)|p.G1078W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACAGGTGCCGGGCAGCCTAC	0.453000													21	71					7.88262e-20	4.68082e-19	0.003330	1	0
UNC5C	8633	broad.mit.edu	37	4	96141216	96141216	+	Missense_Mutation	SNP	C	C	T	rs150089453		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:96141216C>T	ENST00000453304.1	-	8	1568	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R426H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	407					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCAAAGTCACGATGATTCTT	0.458000													20	44					0	0	0.000958	0	0
ZNF829	374899	broad.mit.edu	37	19	37382576	37382576	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:37382576T>C	ENST00000520965.1	-	6	1426	c.1360A>G	c.(1360-1362)Atc>Gtc	p.I454V	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.I373V|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGTATGGATTCTCTGATGT	0.373000													9	19					0	0	0.004482	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:181767596G>A	ENST00000526775.1	+	46	6547	c.6382G>A	c.(6382-6384)Gag>Aag	p.E2128K	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2079K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2147K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2171K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2190K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2141K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1754K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642000													23	50					0	0	0.003954	0	0
FN1	2335	broad.mit.edu	37	2	216240367	216240367	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:216240367T>G	ENST00000354785.4	-	37	6331	c.5962A>C	c.(5962-5964)Atc>Ctc	p.I1988L	FN1_ENST00000323926.6_Missense_Mutation_p.I1988L|FN1_ENST00000443816.1_Missense_Mutation_p.I1807L|FN1_ENST00000359671.1_Missense_Mutation_p.I1897L|FN1_ENST00000432072.2_Missense_Mutation_p.I1898L|FN1_ENST00000357867.4_Missense_Mutation_p.I1807L|FN1_ENST00000357009.2_Missense_Mutation_p.I1897L|FN1_ENST00000356005.4_Missense_Mutation_p.I1807L|FN1_ENST00000446046.1_Missense_Mutation_p.I1897L|FN1_ENST00000346544.3_Missense_Mutation_p.I1897L|FN1_ENST00000345488.5_Missense_Mutation_p.I1897L|FN1_ENST00000336916.4_Missense_Mutation_p.I1897L|FN1_ENST00000421182.1_Missense_Mutation_p.I1807L			P02751	FINC_HUMAN	fibronectin 1	1897	Binds to FBLN1.|Fibronectin type-III 15.|Heparin-binding 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGGCGTCGATGACCACAGGG	0.428000													27	48					0	0	0.001271	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58202514	58202514	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:58202514C>T	ENST00000262506.3	-	6	696	c.513_splice	c.e6+1	p.K171_splice	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463000													23	27					0	0	0.003330	0	0
INTS4P2	644619	broad.mit.edu	37	7	65157766	65157766	+	RNA	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:65157766C>G	ENST00000430126.2	+	0	1093																											CAGATCACACCGTCAGGCACT	0.413000													5	147					0	0	0.000602	0	0
CPT1A	1374	broad.mit.edu	37	11	68562283	68562283	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:68562283C>T	ENST00000265641.5	-	8	1022	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	CPT1A_ENST00000539743.1_Missense_Mutation_p.E290K|CPT1A_ENST00000540367.1_Missense_Mutation_p.E290K|CPT1A_ENST00000538994.1_Missense_Mutation_p.E42K|CPT1A_ENST00000376618.2_Missense_Mutation_p.E290K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	290					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTTTGATTTCCTCCCGGTCC	0.408000													32	66					0	0	0.002096	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824419	55824419	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824419G>A	ENST00000326652.4	-	8	692	c.510C>T	c.(508-510)atC>atT	p.I170I	TMEM150B_ENST00000438693.1_Silent_p.I170I			A6NC51	T150B_HUMAN	transmembrane protein 150B	170						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CGTGGAGGACGATCACTGCCC	0.677000													6	7					0	0	0.001168	0	0
OR6T1	219874	broad.mit.edu	37	11	123813951	123813951	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123813951C>A	ENST00000321252.2	-	1	629	c.595G>T	c.(595-597)Gct>Tct	p.A199S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCATGAAAGCCACCAGTTTC	0.547000													23	45					2.21704e-12	1.23982e-11	0.002780	1	0
MYBPC2	4606	broad.mit.edu	37	19	50958379	50958379	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:50958379C>T	ENST00000357701.5	+	19	2080	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	677	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTCGTAGAGCGGAAGAAGAA	0.572000													11	27					0	0	0.000673	0	0
SMAD5	4090	broad.mit.edu	37	5	135513140	135513140	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:135513140C>T	ENST00000545279.1	+	9	1727	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	SMAD5_ENST00000545620.1_Missense_Mutation_p.P456L|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	457	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGGCTCCCCTCTGAACCCC	0.398000													5	12					0	0	0.000602	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374806	48374806	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:48374806T>G	ENST00000222002.3	-	6	903	c.764A>C	c.(763-765)aAa>aCa	p.K255T		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	255					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GAAGTGATTTTTCCAGTCCCC	0.478000													3	58					0	0	0.004672	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027884	94027884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:94027884T>C	ENST00000265140.5	+	20	3037	c.2618T>C	c.(2617-2619)gTg>gCg	p.V873A		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	873										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTCACTCAAGTGGACGGGGTG	0.493000													23	61					0	0	0.003330	0	0
CEP170	9859	broad.mit.edu	37	1	243333053	243333053	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:243333053C>T	ENST00000366542.1	-	12	1771	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	CEP170_ENST00000366544.1_Missense_Mutation_p.G476S|CEP170_ENST00000366543.1_Missense_Mutation_p.G476S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	574						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAAGATGTGCCTTCCTAAAGG	0.383000													6	20					0	0	0.004482	0	0
RUFY2	55680	broad.mit.edu	37	10	70138405	70138405	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:70138405T>C	ENST00000399200.2	-	12	1230	c.1126A>G	c.(1126-1128)Act>Gct	p.T376A	RUFY2_ENST00000602465.1_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.T352A|RUFY2_ENST00000388768.2_Intron	NM_001042417.1	NP_001035882.1	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	276						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTGTCCTAGTTTGAGTTAAC	0.353000													6	16					0	0	0.003080	0	0
PCDH20	64881	broad.mit.edu	37	13	61986231	61986231	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:61986231G>A	ENST00000409186.1	-	5	4106	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	PCDH20_ENST00000409204.4_Silent_p.D667D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	640	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCGTCCAGCGTCAGCATCTG	0.448000													29	49					0	0	0.001786	0	0
GALNT10	55568	broad.mit.edu	37	5	153789255	153789255	+	Missense_Mutation	SNP	C	C	T	rs147745456		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:153789255C>T	ENST00000297107.6	+	9	1456	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.T378M|GALNT10_ENST00000377657.3_Missense_Mutation_p.T113M	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	440						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggTTTATGACGAAGATAGCC	0.597000													35	81					0	0	0.003271	0	0
SPTBN5	51332	broad.mit.edu	37	15	42150939	42150939	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42150939G>A	ENST00000320955.6	-	49	8314	c.8087C>T	c.(8086-8088)gCg>gTg	p.A2696V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2696					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCAGCCACGCAGCCACCTG	0.622000													6	7					0	0	0.001984	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													5	41					0	0	0.001984	0	0
BCMO1	53630	broad.mit.edu	37	16	81301576	81301576	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:81301576G>A	ENST00000258168.2	+	6	1144	c.683G>A	c.(682-684)cGc>cAc	p.R228H	BCMO1_ENST00000425577.2_Missense_Mutation_p.R159H	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	228					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATCCCATCCCGCTCCCTGCTC	0.527000													27	48					0	0	0.004656	0	0
ZNF835	90485	broad.mit.edu	37	19	57175695	57175695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57175695G>A	ENST00000537055.2	-	2	1103	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTCAGGTGCGCGATCTGCGC	0.697000													6	9					0	0	0.001168	0	0
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGCCATGGCGCGGACGCG	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	22					0	0	0.001882	0	0
TMEFF2	23671	broad.mit.edu	37	2	192922424	192922424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:192922424C>T	ENST00000392314.1	-	5	908	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.E173K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	173						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCGGCATCTTCGTCACATTCT	0.378000													24	43					0	0	0.003954	0	0
AP5M1	55745	broad.mit.edu	37	14	57741500	57741500	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:57741500G>A	ENST00000261558.3	+	2	1019	c.613G>A	c.(613-615)Gga>Aga	p.G205R	AP5M1_ENST00000431972.2_Missense_Mutation_p.G219R	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	205	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GACGTACAAAGGAAAACCACA	0.373000													13	37					0	0	0.001368	0	0
GRPR	2925	broad.mit.edu	37	X	16168686	16168686	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:16168686G>A	ENST00000380289.2	+	2	1070	c.672G>A	c.(670-672)tcG>tcA	p.S224S		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	224					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.S224S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCCACTGTCGATCATCTCTG	0.438000													5	48					0	0	0.000602	0	0
ZNRD1	30834	broad.mit.edu	37	6	30029436	30029436	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:30029436C>A	ENST00000332435.5	+	1	406	c.135C>A	c.(133-135)atC>atA	p.I45I	ZNRD1_ENST00000359374.4_Silent_p.I45I|ZNRD1_ENST00000376782.2_Silent_p.I45I|ZNRD1_ENST00000376785.2_Silent_p.I45I|ZNRD1_ENST00000463141.1_3'UTR	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	45						nucleolus	DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding										GCTTCAACATCAACGTTCGGG	0.602000													14	68					6.31663e-08	3.33796e-07	0.003163	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42437772	42437772	+	Splice_Site	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:42437772C>A	ENST00000397272.3	-	16	1878		c.e16+1		PLA2G4F_ENST00000382396.4_Splice_Site	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTACCCTCACCTGTGATATT	0.602000													17	102					5.35267e-07	2.7776e-06	0.000958	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171809084	171809084	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:171809084C>A	ENST00000311601.5	-	5	527	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3PXD2B_ENST00000519643.1_Silent_p.L119L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	119	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAGAACTGCAGCACCTCAT	0.582000													9	14					0.000978159	0.00473462	0.000978	1	0
COL6A6	131873	broad.mit.edu	37	3	130292872	130292872	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:130292872A>C	ENST00000358511.6	+	7	3081	c.3050A>C	c.(3049-3051)aAg>aCg	p.K1017T	COL6A6_ENST00000453409.2_Missense_Mutation_p.K1017T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1017	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGACTTCAAGAAAATGAAG	0.408000													11	47					0	0	0.000978	0	0
GLI4	2738	broad.mit.edu	37	8	144358450	144358450	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:144358450C>T	ENST00000340042.1	+	4	692	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R203C|ZFP41_ENST00000522452.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	203						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAAGCACCAGCGCATCCACAC	0.687000													6	15					0	0	0.001168	0	0
DRGX	644168	broad.mit.edu	37	10	50594749	50594749	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:50594749C>G	ENST00000374139.2	-	4	400	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DRGX_ENST00000434016.1_Missense_Mutation_p.K135N			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	135					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCAGCGCCTCCTTCTTACTCC	0.642000													20	33					0	0	0.000958	0	0
OR5H2	79310	broad.mit.edu	37	3	98002593	98002593	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:98002593C>G	ENST00000355273.2	+	1	862	c.862C>G	c.(862-864)Cct>Gct	p.P288A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCATAATTCCTTTGCTAAA	0.318000													12	46					0	0	0.000978	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206647	104206647	+	Silent	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:104206647G>C	ENST00000202556.9	-	12	2388	c.2106C>G	c.(2104-2106)ccC>ccG	p.P702P	PPP1R13B_ENST00000423488.2_Silent_p.P121P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	702	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCAGGGGCCGGGGCGCGTTGG	0.667000													40	92					0	0	0.001706	0	0
RAB3C	115827	broad.mit.edu	37	5	57913562	57913562	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:57913562C>A	ENST00000282878.4	+	2	286	c.117C>A	c.(115-117)agC>agA	p.S39R		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	39					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TCGGCAATAGCAGTGTGGGGA	0.428000													12	41					0.000978159	0.00473462	0.000978	1	0
EPHA5	2044	broad.mit.edu	37	4	66361109	66361109	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:66361109T>C	ENST00000273854.3	-	4	1663	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	EPHA5_ENST00000511294.1_Missense_Mutation_p.T355A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T355A|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	355					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCTTACTTGTGCATGCCATT	0.438000										TSP Lung(17;0.13)			62	87					0	0	0.003610	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986736	11986736	+	RNA	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:11986736T>C	ENST00000434078.2	+	0	608					NR_027425.1																						TGCATCTGGCTGAGAAGATGT	0.507000													4	193					0	0	0.000248	0	0
FSCN3	29999	broad.mit.edu	37	7	127235813	127235813	+	Missense_Mutation	SNP	G	G	C	rs150163324		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:127235813G>C	ENST00000265825.5	+	2	816	c.597G>C	c.(595-597)ttG>ttC	p.L199F	FSCN3_ENST00000420086.2_Missense_Mutation_p.L65F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	199						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCACTTCTTGTCCCATGTAG	0.562000													21	61					0	0	0.001523	0	0
INADL	10207	broad.mit.edu	37	1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443000													40	129					0	0	0.001951	0	0
FGFR1	2260	broad.mit.edu	37	8	38283759	38283759	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:38283759C>T	ENST00000447712.2	-	6	1567	c.626G>A	c.(625-627)cGt>cAt	p.R209H	FGFR1_ENST00000356207.5_Missense_Mutation_p.R120H|FGFR1_ENST00000326324.6_Missense_Mutation_p.R118H|FGFR1_ENST00000341462.5_Missense_Mutation_p.R210H|FGFR1_ENST00000335922.5_Missense_Mutation_p.R201H|FGFR1_ENST00000532791.1_Missense_Mutation_p.R209H|FGFR1_ENST00000397103.1_Missense_Mutation_p.R118H|FGFR1_ENST00000425967.3_Missense_Mutation_p.R240H|FGFR1_ENST00000397108.4_Missense_Mutation_p.R207H|FGFR1_ENST00000397113.2_Missense_Mutation_p.R207H|FGFR1_ENST00000397091.5_Missense_Mutation_p.R207H	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	209	Ig-like C2-type 2.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGTGGCATAACGGACCTGAGG	0.542000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						49	143					0	0	0.003610	0	0
KLHL1	57626	broad.mit.edu	37	13	70456525	70456525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:70456525C>A	ENST00000377844.4	-	5	1876	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E180*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	373					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E373*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGATGGTTTCTTCATCAGGA	0.418000													9	43					0.000274275	0.00136192	0.004482	1	0
LURAP1L	286343	broad.mit.edu	37	9	12775787	12775787	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr9:12775787G>T	ENST00000319264.3	+	1	768	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	25																	CGAGAGTCTAGTGCGCTCTCT	0.647000													7	22					0.00198382	0.00944363	0.001984	1	0
SPATA2	9825	broad.mit.edu	37	20	48523004	48523004	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:48523004C>T	ENST00000422556.1	-	3	1064	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	SPATA2_ENST00000543716.1_Missense_Mutation_p.A102T|SPATA2_ENST00000289431.5_Missense_Mutation_p.A239T	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	239					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTCCTTGGCCGCCCGCTCG	0.677000													17	35					0	0	0.004007	0	0
ST18	9705	broad.mit.edu	37	8	53055565	53055565	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:53055565T>A	ENST00000276480.7	-	17	2776	c.2093A>T	c.(2092-2094)aAg>aTg	p.K698M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	698						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGAAACTTTTTTTCCTC	0.428000													20	53					0	0	0.003330	0	0
HSPG2	3339	broad.mit.edu	37	1	22199894	22199894	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:22199894T>C	ENST00000374695.3	-	30	3846	c.3767A>G	c.(3766-3768)aAc>aGc	p.N1256S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1256	Laminin EGF-like 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGCTGGGGTTGCCATAGTA	0.587000													17	95					0	0	0.001523	0	0
DOCK2	1794	broad.mit.edu	37	5	169474561	169474561	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:169474561C>A	ENST00000256935.8	+	40	4094	c.4014C>A	c.(4012-4014)ccC>ccA	p.P1338P	DOCK2_ENST00000540750.1_Silent_p.P399P|DOCK2_ENST00000520908.1_Silent_p.P830P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1338	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTCAGGCCCAAACCAGACT	0.498000													10	45					0.000673444	0.00331542	0.000673	1	0
L1TD1	54596	broad.mit.edu	37	1	62672650	62672650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:62672650G>A	ENST00000498273.1	+	3	645	c.350G>A	c.(349-351)gGg>gAg	p.G117E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	117										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gggatggtagggaaaatagaa	0.323000													17	78					0	0	0.001216	0	0
ECM1	1893	broad.mit.edu	37	1	150485926	150485926	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:150485926G>C	ENST00000369047.4	+	10	1731	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	ECM1_ENST00000346569.6_Missense_Mutation_p.E411Q|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E563Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	536					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCACCTCTGAGCCCAAGGA	0.562000													4	48					0	0	0.000248	0	0
ABCG4	64137	broad.mit.edu	37	11	119029297	119029297	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119029297G>A	ENST00000307417.3	+	11	1562	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	ABCG4_ENST00000531739.1_Missense_Mutation_p.V400M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V400M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	400	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGTCCCACGTGGTTATTGG	0.562000													57	156					0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39624564	39624564	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr8:39624564T>C	ENST00000265708.4	-	14	1415		c.e14-2		ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGACATAAACTGATGGGATGA	0.333000													31	60					0	0	0.001512	0	0
PRF1	5551	broad.mit.edu	37	10	72358804	72358804	+	Missense_Mutation	SNP	G	G	A	rs28933973		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:72358804G>A	ENST00000441259.1	-	3	833	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PRF1_ENST00000373209.2_Missense_Mutation_p.R225W	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	225	MACPF.		R -> W (in FHL2; dbSNP:rs28933973).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCACAGCCCGGATGAAGTGG	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				13	35					0	0	0.002450	0	0
RAC1	5879	broad.mit.edu	37	7	6426850	6426850	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:6426850G>A	ENST00000348035.4	+	2	256	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.G15S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	15					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)	TAGAGCTGTAGGTAAAACTTG	0.318000													23	70					0	0	0.004656	0	0
SDK2	54549	broad.mit.edu	37	17	71395327	71395327	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:71395327G>A	ENST00000392650.3	-	22	3073	c.3073C>T	c.(3073-3075)Cgc>Tgc	p.R1025C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1025C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1025	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCAGCCAGCGGGAGATGGAG	0.632000													15	24					0	0	0.000958	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912862	130912862	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:130912862G>A	ENST00000261655.4	-	12	2386	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	741						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTGGTACTCGTCTCCATGGC	0.587000													28	54					0	0	0.001061	0	0
TNK2	10188	broad.mit.edu	37	3	195594350	195594350	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:195594350G>C	ENST00000333602.6	-	12	3391	c.2774C>G	c.(2773-2775)aCc>aGc	p.T925S	TNK2_ENST00000428187.1_Missense_Mutation_p.T957S|TNK2_ENST00000381916.2_Missense_Mutation_p.T1003S|TNK2_ENST00000392400.1_Missense_Mutation_p.T925S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	925	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTGTTGTTGGTGGAGAAGTT	0.751000													14	12					0	0	0.004007	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430151	27430151	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:27430151C>T	ENST00000310574.3	-	3	841	c.368G>A	c.(367-369)cGc>cAc	p.R123H	SLC5A6_ENST00000408041.1_Missense_Mutation_p.R123H	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	123					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GAGATGCAGGCGGTAGAAAAC	0.557000													14	29					0	0	0.003163	0	0
CSNK2B	1460	broad.mit.edu	37	6	31636415	31636415	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:31636415G>A	ENST00000375880.2	+	4	393	c.275G>A	c.(274-276)cGt>cAt	p.R92H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.R111H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R92H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R92H																							CTTACCAACCGTGGCATCGCC	0.537000													21	35					0	0	0.002299	0	0
CHD2	1106	broad.mit.edu	37	15	93563349	93563349	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:93563349G>T	ENST00000394196.4	+	38	6082	c.5014G>T	c.(5014-5016)Gac>Tac	p.D1672Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D1672Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1672					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGGTACAAGGACCACCATTA	0.527000													11	27					1.05317e-09	5.6694e-09	0.002450	1	0
COL16A1	1307	broad.mit.edu	37	1	32154663	32154663	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:32154663G>T	ENST00000373672.3	-	24	2160	c.1644C>A	c.(1642-1644)atC>atA	p.I548I	COL16A1_ENST00000271069.6_Silent_p.I548I|COL16A1_ENST00000373668.3_Silent_p.I548I	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	548	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCTCTCCTTTGATGCCTTGGA	0.592000													34	72					3.6622e-26	2.19732e-25	0.003755	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469959	25469959	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:25469959C>T	ENST00000264709.3	-	9	1420	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	DNMT3A_ENST00000380746.4_Silent_p.K172K|DNMT3A_ENST00000402667.1_Silent_p.K138K|DNMT3A_ENST00000321117.5_Silent_p.K361K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	361	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGGGCTGCTTGTTGTACG	0.597000			"""Mis, F, N, S"""		AML								16	26					0	0	0.004007	0	0
SYT10	341359	broad.mit.edu	37	12	33559823	33559823	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:33559823T>C	ENST00000228567.3	-	3	1274	c.978A>G	c.(976-978)agA>agG	p.R326R	SYT10_ENST00000535526.1_Silent_p.R145R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	326	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCATGTCATGTCTAGAAAATC	0.368000													19	30					0	0	0.006122	0	0
COPG1	22820	broad.mit.edu	37	3	128993713	128993713	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr3:128993713C>T	ENST00000314797.6	+	22	2393	c.2289C>T	c.(2287-2289)caC>caT	p.H763H		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	763	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TAGCTGATCACATTCAAAAGG	0.483000													100	85					0	0	0.003610	0	0
TMEM180	79847	broad.mit.edu	37	10	104229810	104229810	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:104229810C>A	ENST00000238936.4	+	4	466	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.Q77K	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	77						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGTGACCGGCAGTTCCTCAG	0.592000													20	20					1.37657e-19	8.09083e-19	0.001882	1	0
KIAA1919	91749	broad.mit.edu	37	6	111583600	111583600	+	Silent	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:111583600C>A	ENST00000368847.4	+	2	521	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	56					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GATTTCTTGTCGATGTCATGA	0.348000													39	85					1.15505e-17	6.65308e-17	0.002222	1	0
KMT2B	9757	broad.mit.edu	37	19	36217142	36217142	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:36217142T>C	ENST00000222270.7	+	14	3891	c.3891T>C	c.(3889-3891)tgT>tgC	p.C1297C	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.C1297C	NM_014727.1	NP_055542.1																					CCCAGATCTGTTCAGCCTGTG	0.597000													5	32					0	0	0.000602	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643837	88643837	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:88643837C>T	ENST00000301011.5	+	2	506	c.306C>T	c.(304-306)gaC>gaT	p.D102D	ZC3H18_ENST00000452588.2_Silent_p.D102D	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	102						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGGAGGGGGACGAAGGGGAGG	0.617000													11	17					0	0	0.001368	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224848	42224848	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:42224848C>A	ENST00000221992.6	+	8	1892	c.1778C>A	c.(1777-1779)cCg>cAg	p.P593Q	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P592Q|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P593Q	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	593	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGATGGGCCGGACACCCCC	0.552000													33	141					2.80507e-11	1.53878e-10	0.002445	1	0
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483000													40	14					0	0	0.001485	0	0
XIST	7503	broad.mit.edu	37	X	73065142	73065142	+	RNA	SNP	A	A	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:73065142A>G	ENST00000429829.1	-	0	7446					NR_001564.2																						GGCCAGGAAAAGGGGCCTTGG	0.498000													3	107					0	0	0.000248	0	0
C7orf49	78996	broad.mit.edu	37	7	134853603	134853603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:134853603C>G	ENST00000430372.1	-	2	353	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Missense_Mutation_p.K24N	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	133						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCCACATTCTTTGTAGCCA	0.532000											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	134					0	0	0.001061	0	0
RBBP8	5932	broad.mit.edu	37	18	20555133	20555133	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr18:20555133C>G	ENST00000399722.2	+	6	730	c.379C>G	c.(379-381)Cta>Gta	p.L127V	RBBP8_ENST00000360790.5_Missense_Mutation_p.L127V|RBBP8_ENST00000327155.5_Missense_Mutation_p.L127V|RBBP8_ENST00000399725.2_Missense_Mutation_p.L127V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	127					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGAATACTCTACAGGAAGA	0.269000								Homologous recombination					5	11					0	0	0.003080	0	0
PTPN9	5780	broad.mit.edu	37	15	75798125	75798125	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:75798125T>C	ENST00000306726.2	-	7	1371	c.859A>G	c.(859-861)Acc>Gcc	p.T287A	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	287						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTGGATGGTCATAGCATGG	0.502000													3	65					0	0	0.004672	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148899953	148899953	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:148899953T>C	ENST00000261798.5	-	4	790		c.e4-2		CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTGATCATCTGGAAAAAAAA	0.303000													20	28					0	0	0.001216	0	0
SLC25A14	9016	broad.mit.edu	37	X	129479183	129479183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:129479183G>T	ENST00000218197.5	+	2	330	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SLC25A14_ENST00000339231.3_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000545805.1_Nonsense_Mutation_p.E35*|SLC25A14_ENST00000361980.5_Nonsense_Mutation_p.E32*|SLC25A14_ENST00000543953.1_5'UTR|SLC25A14_ENST00000467496.1_3'UTR	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	35					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTAAGTCATGAGATGTCTGG	0.388000													35	19					1.26612e-14	7.22063e-14	0.003271	1	0
ASB8	140461	broad.mit.edu	37	12	48543326	48543326	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:48543326C>T	ENST00000317697.3	-	4	859	c.690G>A	c.(688-690)gtG>gtA	p.V230V	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Silent_p.V230V	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	230					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGTCTCTGGCCACCTCTCGTG	0.532000													19	44					0	0	0.002299	0	0
RREB1	6239	broad.mit.edu	37	6	7229324	7229324	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr6:7229324T>G	ENST00000379938.2	+	10	1529	c.992T>G	c.(991-993)cTg>cGg	p.L331R	RREB1_ENST00000349384.6_Missense_Mutation_p.L331R|RREB1_ENST00000334984.6_Missense_Mutation_p.L331R|RREB1_ENST00000379933.3_Missense_Mutation_p.L331R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	331					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCTGCTCACTGGCTCTGCAC	0.607000													16	21					0	0	0.000958	0	0
SCN7A	6332	broad.mit.edu	37	2	167298060	167298060	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:167298060C>A	ENST00000409855.1	-	14	2129	c.2003G>T	c.(2002-2004)cGc>cTc	p.R668L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	668					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATGTGCCAGCGTGGGAGTTG	0.458000													15	46					6.49762e-13	3.66924e-12	0.006122	1	0
SCN1A	6323	broad.mit.edu	37	2	166904235	166904235	+	Missense_Mutation	SNP	G	G	T	rs121917923		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:166904235G>T	ENST00000423058.2	-	8	1089	c.1072C>A	c.(1072-1074)Ccc>Acc	p.P358T	SCN1A_ENST00000375405.3_Missense_Mutation_p.P358T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P358T|SCN1A_ENST00000303395.4_Missense_Mutation_p.P358T|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	358			P -> T (in SMEI; dbSNP:rs121917923).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATAATTGGGATTTCTACCA	0.408000													24	68					9.86323e-18	5.73861e-17	0.003954	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													6	123					0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3228388	3228388	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chrX:3228388C>A	ENST00000217939.6	-	7	8010	c.7856G>T	c.(7855-7857)cGc>cTc	p.R2619L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2619	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGCGGCATTGCGGGCCACGCA	0.597000													22	6					2.98393e-07	1.5625e-06	0.002780	1	0
AGAP7	653268	broad.mit.edu	37	10	51464881	51464881	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr10:51464881G>A	ENST00000374095.5	-	7	1700	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	525	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCCGCCCCTGGCTGCTCCCTT	0.537000													6	193					0	0	0.001168	0	0
ACACB	32	broad.mit.edu	37	12	109634899	109634899	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr12:109634899G>A	ENST00000338432.7	+	17	2687	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	ACACB_ENST00000377854.5_Silent_p.G856G|ACACB_ENST00000377848.3_Silent_p.G856G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	856					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ATGATGGGGGGCTCCTGCTCT	0.587000													20	31					0	0	0.000958	0	0
CDHR5	53841	broad.mit.edu	37	11	621590	621590	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:621590A>C	ENST00000358353.3	-	6	801	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDHR5_ENST00000349570.7_Missense_Mutation_p.L160R|CDHR5_ENST00000397542.2_Missense_Mutation_p.L160R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	160	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGTAGAACAGAATGTCGTC	0.647000													23	73					0	0	0.001271	0	0
TTN	7273	broad.mit.edu	37	2	179474008	179474008	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:179474008G>C	ENST00000589042.1	-	273	52253	c.52029C>G	c.(52027-52029)gaC>gaG	p.D17343E	TTN_ENST00000591111.1_Missense_Mutation_p.D15702E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8278E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D14775E|TTN_ENST00000342175.6_Missense_Mutation_p.D8470E|TTN_ENST00000359218.5_Missense_Mutation_p.D8403E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15702	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGACCATGGTCAGGTCGGA	0.433000													11	23					0	0	0.000673	0	0
TPPP2	122664	broad.mit.edu	37	14	21500154	21500154	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:21500154C>A	ENST00000321760.6	+	4	579	c.431C>A	c.(430-432)gCg>gAg	p.A144E	TPPP2_ENST00000530140.2_Missense_Mutation_p.A144E|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	144						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGGGCATTGCGGGACGGGAA	0.537000													18	45					1.33834e-09	7.1378e-09	0.000958	1	0
NLRP3	114548	broad.mit.edu	37	1	247588449	247588449	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:247588449C>T	ENST00000366497.2	+	4	2484	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	NLRP3_ENST00000366496.2_Silent_p.F568F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.F568F|NLRP3_ENST00000336119.3_Silent_p.F568F|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000391827.2_Silent_p.F568F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	568					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGCAAATTCGAAAAGGGGT	0.463000													16	34					0	0	0.004007	0	0
FAT1	2195	broad.mit.edu	37	4	187584693	187584693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:187584693G>A	ENST00000441802.2	-	3	3549	c.3340C>T	c.(3340-3342)Cag>Tag	p.Q1114*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1114	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGACACCCTGATCGGTTGCA	0.448000										HNSCC(5;0.00058)			27	53					0	0	0.003954	0	0
CBL	867	broad.mit.edu	37	11	119169109	119169109	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:119169109G>A	ENST00000264033.4	+	15	2669	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	765	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACTGGTCCCGAGGAGTCAGA	0.507000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				14	64					0	0	0.004007	0	0
GRHL1	29841	broad.mit.edu	37	2	10104143	10104143	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:10104143G>A	ENST00000324907.9	+	6	1011	c.875G>A	c.(874-876)gGa>gAa	p.G292E	GRHL1_ENST00000324883.5_Missense_Mutation_p.G103E|GRHL1_ENST00000405379.2_Missense_Mutation_p.G292E	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	292					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AGCAGTGAAGGAATCCATCAT	0.473000													8	55					0	0	0.000443	0	0
TRIM46	80128	broad.mit.edu	37	1	155152365	155152365	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:155152365G>A	ENST00000368382.1	+	8	1611	c.1474G>A	c.(1474-1476)Ggc>Agc	p.G492S	TRIM46_ENST00000368385.4_Missense_Mutation_p.G515S|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.G515S|TRIM46_ENST00000545012.1_Missense_Mutation_p.G389S|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.G515S	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	515	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCCGGCTACGGCGAATACAG	0.657000													13	34					0	0	0.002450	0	0
FREM2	341640	broad.mit.edu	37	13	39265021	39265021	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr13:39265021C>T	ENST00000280481.7	+	1	3756	c.3540C>T	c.(3538-3540)ccC>ccT	p.P1180P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1180					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTCTTCCCCATTGTAATCA	0.423000													67	103					0	0	0.003610	0	0
MAMDC4	158056	broad.mit.edu	37	9	139750831	139750831	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr9:139750831C>T	ENST00000445819.1	+	15	1893	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	MAMDC4_ENST00000317446.2_Intron|MAMDC4_ENST00000485732.1_Intron			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	615	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGCCCTTCCGGGTGAGGAG	0.662000													7	15					0	0	0.001984	0	0
ALG6	29929	broad.mit.edu	37	1	63879798	63879798	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr1:63879798C>A	ENST00000371108.4	+	10	1188	c.883C>A	c.(883-885)Cac>Aac	p.H295N	ALG6_ENST00000263440.4_Missense_Mutation_p.H297N	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	295					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTGCCACGTCACATCCAATT	0.294000													18	41					6.94344e-10	3.77304e-09	0.006122	1	0
ANTXR2	118429	broad.mit.edu	37	4	80993706	80993706	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr4:80993706C>T	ENST00000403729.2	-	1	534	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ANTXR2_ENST00000295465.4_Silent_p.A3A|ANTXR2_ENST00000307333.7_Silent_p.A3A|ANTXR2_ENST00000404191.1_Intron|ANTXR2_ENST00000346652.6_Silent_p.A3A	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	3						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGGACCGCTCCGCCACCATCC	0.746000									Juvenile Hyaline Fibromatosis				5	5					0	0	0.000602	0	0
KRT33B	3884	broad.mit.edu	37	17	39521652	39521652	+	Missense_Mutation	SNP	C	C	T	rs148300082	byFrequency	TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr17:39521652C>T	ENST00000251646.3	-	4	791	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.627000													7	41					0	0	0.002780	0	0
TRIP11	9321	broad.mit.edu	37	14	92470836	92470836	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr14:92470836A>C	ENST00000267622.4	-	11	3857	c.3484T>G	c.(3484-3486)Tta>Gta	p.L1162V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1162					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATACGTGATAAATTCTGAATA	0.343000			T	PDGFRB	AML								20	23					0	0	0.001216	0	0
STEAP3	55240	broad.mit.edu	37	2	119988594	119988594	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr2:119988594G>A	ENST00000393110.2	+	2	457	c.6G>A	c.(4-6)tcG>tcA	p.S2S	STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000450943.2_5'UTR|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000393108.2_Intron			Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	0					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627000													11	24					0	0	0.001368	0	0
LMTK2	22853	broad.mit.edu	37	7	97821070	97821070	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:97821070G>A	ENST00000297293.5	+	11	1586	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	431					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCTGAAGCCGAACACAAACA	0.577000													14	40					0	0	0.002450	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784241	140784241	+	Silent	SNP	T	T	C			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr5:140784241T>C	ENST00000573521.1	+	1	1722	c.1722T>C	c.(1720-1722)ggT>ggC	p.G574G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTACTGGTGTGGAGCTGG	0.562000													43	114					0	0	0.003214	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317766	79317766	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:79317766G>A	ENST00000419573.3	-	10	1706	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R478C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	478	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACCCCAGGCGCCCCCTGGTG	0.557000													25	43					0	0	0.004656	0	0
VWA5A	4013	broad.mit.edu	37	11	123993788	123993788	+	Silent	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr11:123993788C>T	ENST00000456829.2	+	8	1133	c.882C>T	c.(880-882)agC>agT	p.S294S	VWA5A_ENST00000392748.1_Silent_p.S294S|VWA5A_ENST00000360334.4_Silent_p.S294S|VWA5A_ENST00000361352.5_Silent_p.S294S|VWA5A_ENST00000449321.1_Silent_p.S294S|VWA5A_ENST00000392744.4_Silent_p.S310S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	294	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTATGCAGAGCCCCATGAGTA	0.463000													7	21					0	0	0.003080	0	0
PDE4C	5143	broad.mit.edu	37	19	18329002	18329002	+	Silent	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:18329002G>A	ENST00000355502.3	-	15	2158	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	PDE4C_ENST00000594465.2_Silent_p.D429D|PDE4C_ENST00000262805.11_Silent_p.D397D|PDE4C_ENST00000594617.2_Silent_p.D429D|PDE4C_ENST00000447275.2_Silent_p.D323D|PDE4C_ENST00000539010.1_Silent_p.D198D|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	429					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GATGGTCCACGTCGTGGATGG	0.592000													20	41					0	0	0.001882	0	0
USP29	57663	broad.mit.edu	37	19	57640091	57640091	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:57640091G>T	ENST00000254181.4	+	4	502	c.48G>T	c.(46-48)aaG>aaT	p.K16N	USP29_ENST00000598197.1_Missense_Mutation_p.K16N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	16					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGCCAGAAGACTGGGATGA	0.348000													9	21					7.48243e-07	3.84811e-06	0.000443	1	0
CPVL	54504	broad.mit.edu	37	7	29035468	29035468	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:29035468G>A	ENST00000409850.1	-	17	1997	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	CPVL_ENST00000396276.3_Missense_Mutation_p.P451S|CPVL_ENST00000265394.5_Missense_Mutation_p.P451S			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	451					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGTCATAGGGTAAAATATGT	0.333000													14	21					0	0	0.003163	0	0
NKD1	85407	broad.mit.edu	37	16	50667423	50667423	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr16:50667423G>A	ENST00000268459.3	+	10	1368	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	382					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCCCCCTCCGCCCACCTGGC	0.716000													7	15					0	0	0.001984	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824407	55824407	+	Silent	SNP	G	G	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:55824407G>T	ENST00000326652.4	-	8	704	c.522C>A	c.(520-522)gcC>gcA	p.A174A	TMEM150B_ENST00000438693.1_Silent_p.A174A			A6NC51	T150B_HUMAN	transmembrane protein 150B	174						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCAGCGAGCAGGCGTGGAGGA	0.677000													8	9					5.18039e-06	2.64062e-05	0.003080	1	0
HERC2	8924	broad.mit.edu	37	15	28483835	28483835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:28483835C>T	ENST00000261609.7	-	24	3769	c.3661G>A	c.(3661-3663)Gat>Aat	p.D1221N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1221	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCTCCATCTTTATTATGG	0.378000													22	36					0	0	0.003330	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777046	100777047	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr7:100777046_100777047insA	ENST00000223095.4	+	5	928_929	c.771_772insA	c.(769-774)agtgttfs	p.SV257fs	SERPINE1_ENST00000445463.2_Frame_Shift_Ins_p.SV242fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	257					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ACACCCTCAGCATGTTCATTGC	0.540													20	56	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
PPAN	56342	broad.mit.edu	37	19	10225151	10225152	+	Frame_Shift_Del	DEL	AT	AT	-	rs151191595		TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr19:10225151_10225152delAT	ENST00000556468.1	+	13	2149_2150	c.2122_2123delAT	c.(2122-2124)afs	p.I708fs	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.I708fs|P2RY11_ENST00000321826.4_Frame_Shift_Del_p.I288fs					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTTTGCAGACATAGCCCAGGCC	0.658													21	20	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-CQ-6223-01A-11D-1912-08	TCGA-CQ-6223-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be7cb5b4-1d09-479c-8bf2-a9e7abde575f	2e4128e2-7d9d-4ef1-a2ad-d8eb0a570045	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													4	2	---	---	---	---					
