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
CFTR	1080	broad.mit.edu	37	7	117292972	117292972	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:117292972A>C	ENST00000003084.6	+	24	4082	c.3950A>C	c.(3949-3951)aAa>aCa	p.K1317T	CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1317	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAATATGGAAAGTTGCAGAT	0.338000									Cystic Fibrosis				8	32					0	0	0.307466	0	0
PCLO	27445	broad.mit.edu	37	7	82585177	82585177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:82585177C>T	ENST00000423517.2	-	5	5429	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1698K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1629					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCAATTCTGGCTCTTCG	0.433000													8	26					0	0	0.278610	0	0
C16orf11	146325	broad.mit.edu	37	16	614994	614994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:614994C>G	ENST00000409413.3	+	3	1682	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	468										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTCGACCTCTCTGTGAAACGT	0.726000													3	13					0	0	0.115264	0	0
HIPK3	10114	broad.mit.edu	37	11	33308310	33308310	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:33308310A>G	ENST00000303296.4	+	2	655	c.350A>G	c.(349-351)cAt>cGt	p.H117R	HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R|HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	117					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AACAGATTGCATTTCCTAGAA	0.498000													11	39					0	0	0.361761	0	0
FOCAD	54914	broad.mit.edu	37	9	20981679	20981679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:20981679G>C	ENST00000380249.1	+	40	4996	c.4632G>C	c.(4630-4632)aaG>aaC	p.K1544N	FOCAD_ENST00000338382.6_Missense_Mutation_p.K1544N|FOCAD_ENST00000605086.1_Missense_Mutation_p.K980N	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1544						integral to membrane	binding										TGCCAAATAAGATTCGGGTGA	0.448000													5	48					0	0	0.217242	0	0
ARL13A	392509	broad.mit.edu	37	X	100240775	100240775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:100240775A>T	ENST00000450049.2	+	4	363	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	84							GTP binding			endometrium(1)|ovary(1)	2						AGCATGGCCAAACTACTATGC	0.468000													15	23					0	0	0.457914	0	0
PEX11G	92960	broad.mit.edu	37	19	7550795	7550795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7550795T>A	ENST00000221480.1	-	2	186	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	PEX11G_ENST00000593942.1_5'UTR	NM_080662.2	NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	60						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						AAGATGGTCCTGCAGTGGCTG	0.567000													17	42					0	0	0.500413	0	0
TAOK2	9344	broad.mit.edu	37	16	30002109	30002109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:30002109G>A	ENST00000279394.3	+	18	2853	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	696	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCAGCTGCGGCTTGATGAG	0.592000													18	48					0	0	0.592651	0	0
WDR66	144406	broad.mit.edu	37	12	122369654	122369654	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:122369654C>T	ENST00000288912.4	+	4	1604	c.750C>T	c.(748-750)acC>acT	p.T250T	WDR66_ENST00000397454.2_Silent_p.T250T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	250							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTTCCAGACCATGACCTGGT	0.502000													3	25					0	0	0.115264	0	0
NAT8L	339983	broad.mit.edu	37	4	2065645	2065645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:2065645G>A	ENST00000423729.2	+	3	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K	NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	234	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			GAAGGTGCTGGAGTTCGCCGT	0.652000													6	24					0	0	0.217242	0	0
MIR891B	100126304	broad.mit.edu	37	X	145082599	145082599	+	RNA	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:145082599C>T	ENST00000401245.1	-	0	50					NR_030590.1																						aaacatgtgCCATTGAATGTT	0.378000													13	60					0	0	0.435327	0	0
FGF1	2246	broad.mit.edu	37	5	141974914	141974914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:141974914G>A	ENST00000359370.6	-	4	488	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.R137W	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	137	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TAGTGAGTCCGAGGACCGCGT	0.478000													15	41					0	0	0.457914	0	0
BMP10	27302	broad.mit.edu	37	2	69093551	69093551	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:69093551G>T	ENST00000295379.1	-	2	645	c.487C>A	c.(487-489)Cgg>Agg	p.R163R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	163					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GTAATTTTCCGGTCTACTCCA	0.448000													3	33					0.115264	0.116742	0.115264	1	0
IGHD	3495	broad.mit.edu	37	14	106304821	106304821	+	RNA	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:106304821T>G	ENST00000390556.2	-	0	1125																											tagtatttcttattgcatttt	0.423000													3	6					0	0	0.115264	0	0
SERINC1	57515	broad.mit.edu	37	6	122777667	122777667	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:122777667T>C	ENST00000368454.1	-	5	659	c.330A>G	c.(328-330)aaA>aaG	p.K110K	SERINC1_ENST00000339697.3_Silent_p.K110K			Q9NRX5	SERC1_HUMAN	serine incorporator 1	110					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TACTCTTCACTTTGATCATTA	0.378000													11	38					0	0	0.411799	0	0
KCNF1	3754	broad.mit.edu	37	2	11053801	11053801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:11053801C>T	ENST00000295082.1	+	1	1739	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAACAAGCAGCGCGTCCTGGA	0.617000													6	20					0	0	0.217242	0	0
ADRA1A	148	broad.mit.edu	37	8	26627932	26627932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:26627932C>T	ENST00000380573.3	-	3	2158	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V379M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	379					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGATCCCACGGGGATGCGC	0.552000													23	78					0	0	0.624587	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625998	77625998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77625998T>C	ENST00000407578.2	-	81	13969	c.13703A>G	c.(13702-13704)tAt>tGt	p.Y4568C	MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTGGGATCATAATCATCTCC	0.428000													7	22					0	0	0.361761	0	0
FAT1	2195	broad.mit.edu	37	4	187524850	187524850	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:187524850G>C	ENST00000441802.2	-	19	11039	c.10830C>G	c.(10828-10830)taC>taG	p.Y3610*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3610	Cadherin 33.				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						CATTGAGAAGGTATTGCCCTA	0.498000										HNSCC(5;0.00058)			6	20					0	0	0.217242	0	0
COL27A1	85301	broad.mit.edu	37	9	116930511	116930511	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:116930511C>T	ENST00000356083.3	+	3	1067	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	226	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGTCGCTCACAATTACTG	0.557000													24	64					0	0	0.681144	0	0
WDR18	57418	broad.mit.edu	37	19	985937	985937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:985937G>A	ENST00000251289.5	+	2	306	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	95								p.V95I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTCTACGTCCTGGCAGG	0.572000													4	37					0	0	0.184627	0	0
OR4N5	390437	broad.mit.edu	37	14	20612330	20612330	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:20612330T>C	ENST00000333629.1	+	1	436	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGCATTATCGTTGGTTCTGTG	0.498000													12	117					0	0	0.435327	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558908	140558908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140558908G>C	ENST00000239444.2	+	1	1538	c.1293G>C	c.(1291-1293)agG>agC	p.R431S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACACCCAGGCTGACAACAC	0.532000													19	69					0	0	0.539581	0	0
CHD9	80205	broad.mit.edu	37	16	53289642	53289642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:53289642C>T	ENST00000566029.1	+	19	4369	c.4160C>T	c.(4159-4161)aCa>aTa	p.T1387I	CHD9_ENST00000398510.3_Missense_Mutation_p.T1387I|CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1387					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTACGTCGTACAAAAACTATT	0.393000													21	197					0	0	0.608945	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627104	140627104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140627104C>T	ENST00000231173.3	+	1	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		653	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.697000													19	60					0	0	0.592651	0	0
MAP7	9053	broad.mit.edu	37	6	136710510	136710510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136710510C>G	ENST00000354570.3	-	4	800	c.390G>C	c.(388-390)caG>caC	p.Q130H	MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	130					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCAAGTCTCTGCCTCCGCT	0.562000													20	89					0	0	0.608945	0	0
CKAP2	26586	broad.mit.edu	37	13	53048164	53048164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:53048164A>G	ENST00000378037.5	+	8	1840	c.1750A>G	c.(1750-1752)Acg>Gcg	p.T584A	CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	584					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAATACAGAAACGAGGACAAG	0.328000													12	43					0	0	0.411799	0	0
DCHS1	8642	broad.mit.edu	37	11	6662135	6662135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:6662135G>T	ENST00000299441.3	-	2	1121	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCCTGGGCCCTCCGGGG	0.597000													25	115					1.42536e-11	1.56393e-11	0.681144	1	0
UPP1	7378	broad.mit.edu	37	7	48146983	48146983	+	Silent	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:48146983C>G	ENST00000331803.4	+	9	1295	c.672C>G	c.(670-672)ctC>ctG	p.L224L	UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	224					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ATGGGGCTCTCTGCTCCTACA	0.582000													21	36					0	0	0.639603	0	0
CDKL5	6792	broad.mit.edu	37	X	18668577	18668577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:18668577G>A	ENST00000379989.3	+	21	3130	c.2845G>A	c.(2845-2847)Gtc>Atc	p.V949I	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	949					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTCCGTGCGTCCCAAACCG	0.582000													23	59					0	0	0.654019	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522000													5	43					0	0	0.217242	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	125					0	0	0.335167	0	0
PJA1	64219	broad.mit.edu	37	X	68381831	68381831	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:68381831A>C	ENST00000361478.1	-	2	1628	c.1251T>G	c.(1249-1251)ccT>ccG	p.P417P	PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374583.1_Silent_p.P417P|PJA1_ENST00000374584.3_Silent_p.P229P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	417							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACCGGGGCCAGGGCTGGTGC	0.622000													8	55					0	0	0.335167	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704198	117704198	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:117704198A>G	ENST00000355044.3	+	29	4174	c.4048A>G	c.(4048-4050)Att>Gtt	p.I1350V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1350						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTAATAGATATTTCACAACA	0.423000													22	49					0	0	0.608945	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156431	70156431	+	Silent	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156431T>A	ENST00000335568.5	+	5	1214	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATAACATTGCTCACATGAAGG	0.453000													21	129					0	0	0.769981	0	0
GP5	2814	broad.mit.edu	37	3	194118839	194118839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:194118839A>T	ENST00000401815.1	-	1	244	c.173T>A	c.(172-174)tTc>tAc	p.F58Y	GP5_ENST00000323007.3_Missense_Mutation_p.F58Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	58					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCCATTCCGAAGAGCAGGAT	0.677000													46	73					0	0	0.870114	0	0
ADCYAP1	116	broad.mit.edu	37	18	909585	909585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:909585G>C	ENST00000579794.1	+	4	758	c.480G>C	c.(478-480)aaG>aaC	p.K160N	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	160					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTAGGGAAGAGGTATAAAC	0.507000													13	194					0	0	0.435327	0	0
PRDM10	56980	broad.mit.edu	37	11	129827743	129827743	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:129827743G>A	ENST00000358825.5	-	3	363	c.132C>T	c.(130-132)cgC>cgT	p.R44R	PRDM10_ENST00000528746.1_Silent_p.R44R|PRDM10_ENST00000360871.3_Silent_p.R44R	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTGTGGGGGGCGAACCTGGT	0.537000													51	182					0	0	0.870114	0	0
HRC	3270	broad.mit.edu	37	19	49657913	49657913	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:49657913C>T	ENST00000252825.4	-	1	768	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HRC_ENST00000595625.1_Silent_p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	194	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E194E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctcttcTCCTT	0.557000													4	56					0	0	0.184627	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	116					0	0	0.184627	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257171	9257171	+	Silent	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:9257171A>G	ENST00000383440.2	+	8	4094	c.3837A>G	c.(3835-3837)agA>agG	p.R1279R	ANKRD12_ENST00000262126.3_Silent_p.R1302R|ANKRD12_ENST00000400020.3_Silent_p.R1279R	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1302						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGAGGGGAGACCTACCATAG	0.398000													50	70					0	0	0.870114	0	0
DNA2	1763	broad.mit.edu	37	10	70204742	70204742	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:70204742T>C	ENST00000399180.2	-	8	1413	c.1414A>G	c.(1414-1416)Ata>Gta	p.I472V	DNA2_ENST00000358410.3_Missense_Mutation_p.I386V|DNA2_ENST00000399179.2_Missense_Mutation_p.I386V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	386					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCCTCAATTATTTGTGGCAAA	0.343000													20	44					0	0	0.557998	0	0
GON4L	54856	broad.mit.edu	37	1	155736338	155736338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155736338C>T	ENST00000437809.1	-	21	3048	c.2926G>A	c.(2926-2928)Ggt>Agt	p.G976S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.G976S|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	976					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGACTACACCCTTAGGCAAT	0.498000													19	66					0	0	0.557998	0	0
UGDH	7358	broad.mit.edu	37	4	39512453	39512453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:39512453A>G	ENST00000316423.6	-	4	635	c.293T>C	c.(292-294)aTg>aCg	p.M98T	UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	98					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GCCTTTCCCCATTCCATAGGT	0.413000													20	67					0	0	0.592651	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974084	56974084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:56974084C>T	ENST00000439977.2	+	6	1029	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	278						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTGTTTTTCTCAGTATCCT	0.433000			T	ERG	prostate								81	70					0	0	0.870114	0	0
TTC39B	158219	broad.mit.edu	37	9	15185309	15185309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:15185309G>A	ENST00000355694.2	-	16	1619	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000512701.1_Missense_Mutation_p.P528L|TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	462							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CACAGGTGCAGGTAAGGAGGC	0.473000													43	102					0	0	0.840704	0	0
CDH3	1001	broad.mit.edu	37	16	68712178	68712178	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:68712178C>G	ENST00000264012.4	+	4	932	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E|CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GAGACTGAATCAGGTACGACT	0.527000													9	34					0	0	0.335167	0	0
CSRP3	8048	broad.mit.edu	37	11	19209725	19209725	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:19209725A>T	ENST00000533783.1	-	4	479	c.239T>A	c.(238-240)cTc>cAc	p.L80H	CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	80					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTCTGTGCTGAGACAGCCAGC	0.567000													18	97					0	0	0.520397	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156462	70156462	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156462C>T	ENST00000335568.5	+	5	1245	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	415					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGCTGTTAGACTGGACTTCCA	0.443000													12	138					0	0	0.681144	0	0
LRRK2	120892	broad.mit.edu	37	12	40715964	40715964	+	Silent	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:40715964A>T	ENST00000298910.7	+	36	5356	c.5298A>T	c.(5296-5298)acA>acT	p.T1766T		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1766					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAATTACAGTTCCTTCTT	0.303000													9	35					0	0	0.307466	0	0
RBM42	79171	broad.mit.edu	37	19	36124784	36124784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:36124784G>A	ENST00000262633.4	+	7	985	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000589559.1_Missense_Mutation_p.E265K|RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	294	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCATTGCCCGAGCCTGAGCC	0.746000													4	8					0	0	0.217242	0	0
HR	55806	broad.mit.edu	37	8	21986633	21986633	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:21986633C>T	ENST00000381418.4	-	2	1531	c.51G>A	c.(49-51)acG>acA	p.T17T	HR_ENST00000312841.8_Silent_p.T17T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	17							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTCTGGGGCCGTCTTCTCCC	0.652000													4	78					0	0	0.150653	0	0
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612000													46	173					0	0	0.870114	0	0
MTOR	2475	broad.mit.edu	37	1	11297982	11297982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:11297982T>C	ENST00000361445.4	-	13	2202	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	709					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GATGGCCAGCTCCCGGATCTC	0.582000													12	33					0	0	0.411799	0	0
DCST1	149095	broad.mit.edu	37	1	155018958	155018958	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155018958C>A	ENST00000295542.1	+	13	1587	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	DCST1_ENST00000392480.1_Missense_Mutation_p.F497L|DCST1_ENST00000368419.2_Missense_Mutation_p.F497L|DCST1_ENST00000423025.2_Missense_Mutation_p.F472L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	497						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTACTCCTTCCGCAGTAAGC	0.582000													10	36					0.010729	0.0109367	0.387290	1	0
PRAMEF16	654348	broad.mit.edu	37	1	13497673	13497673	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:13497673G>C	ENST00000376121.3	+	3	1000	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	324												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTAAAGGAGCTGCATCT	0.473000													10	93					0	0	0.769981	0	0
CADM2	253559	broad.mit.edu	37	3	86114798	86114798	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:86114798C>T	ENST00000383699.3	+	9	1641	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	CADM2_ENST00000407528.2_Silent_p.L369L|CADM2_ENST00000405615.2_Silent_p.L371L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	369	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAA	0.403000													6	18					0	0	0.248553	0	0
IL24	11009	broad.mit.edu	37	1	207072852	207072852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:207072852G>A	ENST00000367093.3	+	3	509	c.235G>A	c.(235-237)Gac>Aac	p.D79N	IL24_ENST00000491169.1_Intron|IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000294984.2_Missense_Mutation_p.D78N	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	78					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGCTGTGAAAGACACTATGGT	0.572000													15	56					0	0	0.457914	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597369	136597369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:136597369C>T	ENST00000531224.1	-	5	1546	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	432					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413000													13	218					0	0	0.457914	0	0
PQLC2	54896	broad.mit.edu	37	1	19653876	19653876	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:19653876C>T	ENST00000375153.3	+	7	1414	c.774C>T	c.(772-774)ggC>ggT	p.G258G	PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	258						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGTGGGCAGCCTGGGCG	0.652000													8	32					0	0	0.278610	0	0
MIB1	57534	broad.mit.edu	37	18	19424087	19424087	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr18:19424087A>T	ENST00000261537.6	+	15	2348	c.2084A>T	c.(2083-2085)cAg>cTg	p.Q695L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	695					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTGATATTCAGGATAAGGAT	0.433000													7	63					0	0	0.278610	0	0
RRH	10692	broad.mit.edu	37	4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:110758732G>T	ENST00000317735.4	+	5	725	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	231					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403000													7	23					0.000157383	0.000165777	0.278610	1	0
CCDC60	160777	broad.mit.edu	37	12	119917004	119917004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:119917004C>G	ENST00000327554.2	+	4	912	c.447C>G	c.(445-447)caC>caG	p.H149Q	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	149										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCGAGGCTCACGTGTAAGTAG	0.478000													5	28					0	0	0.217242	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	97					0	0	0.184627	0	0
ITGA7	3679	broad.mit.edu	37	12	56091493	56091493	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:56091493G>A	ENST00000257880.7	-	10	1746	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	ITGA7_ENST00000555728.1_Silent_p.T509T|ITGA7_ENST00000553804.1_Silent_p.T469T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000257879.6_Silent_p.T465T|ITGA7_ENST00000394229.2_Silent_p.T465T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000347027.6_Silent_p.T465T			Q13683	ITA7_HUMAN	integrin, alpha 7	509					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAGCACTGCGGTGTCAGCCA	0.597000													19	53					0	0	0.575678	0	0
ST5	6764	broad.mit.edu	37	11	8728695	8728695	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:8728695C>T	ENST00000534127.1	-	16	2893	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S	ST5_ENST00000526099.1_Silent_p.S349S|ST5_ENST00000357665.1_Silent_p.S836S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000530438.1_Silent_p.S416S|ST5_ENST00000530991.1_Silent_p.S308S|ST5_ENST00000534278.1_Silent_p.S27S|ST5_ENST00000526757.1_Silent_p.S416S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	836	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGAAGGGCGACTCCATGA	0.592000													11	33					0	0	0.361761	0	0
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473000													3	38					0	0	0.115264	0	0
SYNE1	23345	broad.mit.edu	37	6	152694261	152694261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:152694261C>T	ENST00000367255.5	-	59	10019	c.9418G>A	c.(9418-9420)Gcg>Acg	p.A3140T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCCTTTCGCTTTCTCTTTG	0.393000										HNSCC(10;0.0054)			29	118					0	0	0.729181	0	0
TCERG1	10915	broad.mit.edu	37	5	145878147	145878147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:145878147C>G	ENST00000296702.5	+	16	2318	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	760	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAAGATTCAAAGCAATTG	0.388000													16	43					0	0	0.539581	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156461	70156461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:70156461A>T	ENST00000335568.5	+	5	1244	c.1242A>T	c.(1240-1242)agA>agT	p.R414S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	414					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CAGCTGTTAGACTGGACTTCC	0.443000													12	132					0	0	0.681144	0	0
DLG5	9231	broad.mit.edu	37	10	79569435	79569435	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:79569435T>C	ENST00000372391.2	-	24	4522	c.4517A>G	c.(4516-4518)aAa>aGa	p.K1506R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1506	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGACTTTTTGATGAAGAC	0.542000													70	162					0	0	0.870114	0	0
FAM161A	84140	broad.mit.edu	37	2	62067206	62067206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:62067206C>A	ENST00000404929.1	-	3	944	c.933G>T	c.(931-933)aaG>aaT	p.K311N	FAM161A_ENST00000405894.3_Missense_Mutation_p.K311N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	311					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCTCCTTCAGAGACC	0.443000													17	132					4.96729e-08	5.30292e-08	0.575678	1	0
SPRY2	10253	broad.mit.edu	37	13	80911560	80911560	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:80911560A>C	ENST00000377102.1	-	2	1258	c.281T>G	c.(280-282)cTc>cGc	p.L94R	SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R|SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	94					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGAGTGCTGGAGCCTAGGAGG	0.622000													17	62					0	0	0.539581	0	0
FAM172A	83989	broad.mit.edu	37	5	93294538	93294538	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:93294538T>C	ENST00000395965.3	-	6	653	c.511A>G	c.(511-513)Ata>Gta	p.I171V	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V|FAM172A_ENST00000509739.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	171						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTTCATTTATAATAAGTCTT	0.388000													16	81					0	0	0.575678	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011580	46011580	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:46011580G>T	ENST00000400368.1	-	1	806	c.786C>A	c.(784-786)acC>acA	p.T262T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	262	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGGGGAGGAGGTGCAGCAAG	0.652000													28	84					2.68265e-12	2.96405e-12	0.769981	1	0
OR6B2	389090	broad.mit.edu	37	2	240969562	240969562	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:240969562G>T	ENST00000402971.2	-	1	344	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577000													8	46					1.76689e-08	1.91212e-08	0.335167	1	0
ABHD10	55347	broad.mit.edu	37	3	111697969	111697969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:111697969G>T	ENST00000273359.3	+	1	88	c.61G>T	c.(61-63)Gca>Tca	p.A21S	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	21						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CTGGGGCTGGGCAGCCGTCCC	0.687000													6	31					0.00116845	0.00122261	0.217242	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	24					0	0	0.115264	0	0
DLX1	1745	broad.mit.edu	37	2	172951395	172951395	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:172951395G>A	ENST00000361725.4	+	2	779	c.327G>A	c.(325-327)gaG>gaA	p.E109E	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGGACTCGGAGAAGAGCACGG	0.567000													21	90					0	0	0.608945	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:7578479G>T	ENST00000420246.2	-	5	583	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612000		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)			25	33					3.65163e-15	4.12112e-15	0.706142	1	0
NPY	4852	broad.mit.edu	37	7	24324986	24324986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:24324986G>A	ENST00000407573.1	+	3	417	c.127G>A	c.(127-129)Gag>Aag	p.E43K	NPY_ENST00000405982.1_Missense_Mutation_p.E43K|NPY_ENST00000242152.2_Missense_Mutation_p.E43K			P01303	NPY_HUMAN	neuropeptide Y	43					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGCACCAGCGGAGGACATGGC	0.682000													7	27					0	0	0.248553	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926233	156926233	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:156926233C>T	ENST00000368194.3	-	19	2689	c.1650G>A	c.(1648-1650)ccG>ccA	p.P550P	ARHGEF11_ENST00000361409.2_Silent_p.P510P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	510					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGGAAGAACGGTAGCCACT	0.552000													21	86					0	0	0.592651	0	0
DCAF13	25879	broad.mit.edu	37	8	104453792	104453792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:104453792C>G	ENST00000297579.5	+	10	1929	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	399					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTACCAAAATCTATCTATAGC	0.393000													26	112					0	0	0.706142	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507028	44507028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr20:44507028G>A	ENST00000255152.2	+	2	2040	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	611							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGGCCAGCCTGAGAAGCAAGG	0.587000													18	80					0	0	0.557998	0	0
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr2:202131498C>T	ENST00000358485.4	+	2	662	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488000										HNSCC(4;0.00038)			5	18					0	0	0.184627	0	0
CD1E	913	broad.mit.edu	37	1	158326543	158326543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:158326543C>T	ENST00000444681.2	+	5	1020	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	CD1E_ENST00000368167.3_Missense_Mutation_p.H342Y|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368157.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	342	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTTTCTCCCCACACACCCAG	0.413000													9	50					0	0	0.335167	0	0
EVI5L	115704	broad.mit.edu	37	19	7916349	7916349	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:7916349C>T	ENST00000270530.4	+	7	979	c.783C>T	c.(781-783)ttC>ttT	p.F261F	EVI5L_ENST00000538904.2_Silent_p.F261F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	261	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTCCGTTCCCAAA	0.647000													11	68					0	0	0.411799	0	0
FOXP1	27086	broad.mit.edu	37	3	71247175	71247175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr3:71247175C>T	ENST00000318779.3	-	7	700	c.225G>A	c.(223-225)tgG>tgA	p.W75*	FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Intron|FOXP1_ENST00000484350.1_Intron	NM_001012505.1	NP_001012523.1	Q9H334	FOXP1_HUMAN	forkhead box P1	0	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCTCTTAAGCCAACTGCTGG	0.517000			T	PAX5	ALL								11	31					0	0	0.361761	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457855	100457855	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100457855G>A	ENST00000354161.3	+	9	1343		c.e9+1		SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9							integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGGTGCAGGTGAGCCTTCT	0.562000													8	26					0	0	0.278610	0	0
SLC47A2	146802	broad.mit.edu	37	17	19605988	19605988	+	Splice_Site	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:19605988C>G	ENST00000350657.5	-	14	1311		c.e14-1		SLC47A2_ENST00000325411.5_Splice_Site|SLC47A2_ENST00000463318.1_Splice_Site	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AATGACATCTCTGCAGAAGAA	0.453000													6	13					0	0	0.217242	0	0
ZNF320	162967	broad.mit.edu	37	19	53384668	53384668	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:53384668T>A	ENST00000595635.1	-	8	1212	c.711A>T	c.(709-711)agA>agT	p.R237S	ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CAGTATGACTTCTATGATGAC	0.398000													10	66					0	0	0.361761	0	0
XIST	7503	broad.mit.edu	37	X	73062364	73062364	+	RNA	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:73062364A>G	ENST00000429829.1	-	0	10224					NR_001564.2																						TTATCCACCTAGTTCAGGCCT	0.423000													3	27					0	0	0.150653	0	0
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000351960.6_Silent_p.S698S|NUMA1_ENST00000358965.6_Silent_p.S1820S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552000			T	RARA	APL								6	56					0	0	0.248553	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959641	117959641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117959641C>T	ENST00000310164.2	+	4	941	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggggagaaagcctccctttat	0.483000													35	110					0	0	0.788014	0	0
ARRB2	409	broad.mit.edu	37	17	4623596	4623596	+	Splice_Site	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:4623596T>G	ENST00000269260.2	+	12	1234		c.e12+2		ARRB2_ENST00000571206.1_Splice_Site|ARRB2_ENST00000572457.1_Splice_Site|ARRB2_ENST00000412477.3_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000381488.6_Splice_Site|ARRB2_ENST00000346341.2_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.?(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TCGAGGCGGGTGAGTGTCATG	0.607000													5	22					0	0	0.435327	0	0
CHURC1	91612	broad.mit.edu	37	14	65390788	65390788	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr14:65390788T>C	ENST00000607599.1	+	2	254	c.200T>C	c.(199-201)cTg>cCg	p.L67P	CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P|CHURC1_ENST00000549115.1_Missense_Mutation_p.L67P	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GATTTTATGCTGATCACAAAC	0.383000													14	63					0	0	0.500413	0	0
CEP44	80817	broad.mit.edu	37	4	175232005	175232005	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:175232005T>G	ENST00000503780.1	+	9	1371	c.957T>G	c.(955-957)aaT>aaG	p.N319K	CEP44_ENST00000457424.2_Missense_Mutation_p.N319K|CEP44_ENST00000426172.1_Missense_Mutation_p.N319K|CEP44_ENST00000296519.4_Missense_Mutation_p.N319K	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	319						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ACCTTCTGAATCCTCGTAAGT	0.274000													22	65					0	0	0.624587	0	0
THSD7A	221981	broad.mit.edu	37	7	11630197	11630197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:11630197C>T	ENST00000423059.3	-	4	1594	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGTTGCCGCGCCTCTTGTC	0.557000										HNSCC(18;0.044)			9	29					0	0	0.307466	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:140188217C>T	ENST00000530339.1	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657000													16	59					0	0	0.575678	0	0
SMTN	6525	broad.mit.edu	37	22	31492832	31492832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:31492832G>A	ENST00000333137.7	+	14	2193	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SMTN_ENST00000358743.1_Missense_Mutation_p.D659N|SMTN_ENST00000347557.2_Missense_Mutation_p.D659N|SMTN_ENST00000404574.1_Intron	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	659					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCGGGCAGCTGATGGCTCTGC	0.687000													19	55					0	0	0.639603	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661382	77661382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:77661382G>A	ENST00000296043.6	+	5	3009	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	686					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGAACCCAGGAGGGTTACCC	0.607000													53	72					0	0	0.870114	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	26					0	0	0.115264	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587430	111587430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:111587430G>A	ENST00000368847.4	+	4	1018	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	222					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)		GAGACATTTCGAAGAGCAAAA	0.343000													13	32					0	0	0.411799	0	0
PLOD3	8985	broad.mit.edu	37	7	100859997	100859997	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:100859997C>T	ENST00000223127.3	-	2	578	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	60					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGAAGAACTCCGCAGAGC	0.607000													7	30					0	0	0.307466	0	0
VCAN	1462	broad.mit.edu	37	5	82817939	82817939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:82817939G>A	ENST00000265077.3	+	7	4379	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1272	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGGAAACAGAAACCGATAT	0.453000													10	68					0	0	0.335167	0	0
TKTL2	84076	broad.mit.edu	37	4	164394114	164394114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:164394114G>T	ENST00000280605.3	-	1	933	c.773C>A	c.(772-774)gCa>gAa	p.A258E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	258						cytoplasm	metal ion binding|transketolase activity	p.A258V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAATTTTCTGCATCCTCAAT	0.408000													24	93					5.61819e-17	6.38614e-17	0.693898	1	0
IRS4	8471	broad.mit.edu	37	X	107979062	107979062	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:107979062G>A	ENST00000372129.2	-	1	589	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	171	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTCTTGGGTGAAAAGAGCAA	0.597000													7	55					0	0	0.248553	0	0
COL5A1	1289	broad.mit.edu	37	9	137716559	137716559	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:137716559C>T	ENST00000371817.3	+	62	5226	c.4812C>T	c.(4810-4812)taC>taT	p.Y1604Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1604	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGACTACGCGGACGGCA	0.622000													12	29					0	0	0.435327	0	0
MCF2	4168	broad.mit.edu	37	X	138724625	138724625	+	Splice_Site	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:138724625A>T	ENST00000370576.4	-	1	261		c.e1+1		MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000536274.1_Splice_Site|MCF2_ENST00000520602.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAGAGCCCTTACCGCATTCCT	0.488000													32	154					0	0	0.769981	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													3	37					0	0	0.184627	0	0
ROS1	6098	broad.mit.edu	37	6	117687343	117687343	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:117687343A>C	ENST00000368508.3	-	18	2906	c.2708T>G	c.(2707-2709)aTt>aGt	p.I903S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I898S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	903					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTGTGATAATCCTAAAGCC	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	106					0	0	0.520397	0	0
NUDT12	83594	broad.mit.edu	37	5	102894926	102894926	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:102894926A>T	ENST00000230792.2	-	3	546	c.450T>A	c.(448-450)ttT>ttA	p.F150L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	150						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGAAAAGAATAAAAACTGTGG	0.378000													8	42					0	0	0.307466	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867251	2867251	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr17:2867251G>C	ENST00000254695.8	+	7	471	c.381G>C	c.(379-381)ggG>ggC	p.G127G	RAP1GAP2_ENST00000366401.4_Silent_p.G112G|RAP1GAP2_ENST00000540393.2_Silent_p.G108G|RAP1GAP2_ENST00000542807.1_Silent_p.G127G|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	127					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCGCTGGGGAGCAGCATCT	0.602000													11	35					0	0	0.361761	0	0
SON	6651	broad.mit.edu	37	21	34932318	34932318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr21:34932318G>A	ENST00000300278.4	+	7	6822	c.6793G>A	c.(6793-6795)Gtt>Att	p.V2265I	SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAGAACAGTGTTATCACATC	0.458000													17	31					0	0	0.557998	0	0
ZNF107	51427	broad.mit.edu	37	7	64167053	64167053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr7:64167053G>A	ENST00000395391.1	+	4	1746	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R124I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328000													6	27					0	0	0.248553	0	0
EMC2	9694	broad.mit.edu	37	8	109465334	109465334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:109465334G>C	ENST00000220853.3	+	4	298	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		GGCAGTCACAGAGTCAAGCGA	0.398000													5	38					0	0	0.307466	0	0
DCST2	127579	broad.mit.edu	37	1	155006045	155006045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:155006045G>T	ENST00000368424.3	-	1	191	c.133C>A	c.(133-135)Cta>Ata	p.L45I	DCST2_ENST00000295536.5_Missense_Mutation_p.L45I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	45						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACCAGTAGCTCCAGAAGC	0.632000													14	69					1.5739e-10	1.715e-10	0.500413	1	0
DOCK11	139818	broad.mit.edu	37	X	117775197	117775197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chrX:117775197G>T	ENST00000276204.6	+	39	4263	c.4189G>T	c.(4189-4191)Gaa>Taa	p.E1397*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E1397*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1397					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCACTTCTTGAAGGCAATAC	0.368000													20	62					1.1804e-14	1.3134e-14	0.667858	1	0
ARID5B	84159	broad.mit.edu	37	10	63661489	63661489	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:63661489G>A	ENST00000279873.7	+	1	431	c.21_splice	c.e1+1	p.Q7_splice		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	7					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTCACTCCAGGTATTTCGCT	0.587000													7	32					0	0	0.278610	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923092	43923092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:43923092G>C	ENST00000302708.4	+	8	897	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	162					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCACACTAAAGAACCGCATTG	0.488000								Direct reversal of damage					11	32					0	0	0.411799	0	0
VARS	7407	broad.mit.edu	37	6	31749380	31749380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:31749380C>T	ENST00000375663.3	-	21	2862	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	808					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCAGGTCTTCTGACTGAGGG	0.637000													13	40					0	0	0.435327	0	0
DACH1	1602	broad.mit.edu	37	13	72440352	72440352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:72440352G>A	ENST00000305425.4	-	1	978	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q186*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186*	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTATTCTGAGGGGTGTTT	0.607000													7	21					0	0	0.248553	0	0
DNAH10	196385	broad.mit.edu	37	12	124371815	124371815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr12:124371815G>A	ENST00000409039.3	+	51	8621	c.8596G>A	c.(8596-8598)Gct>Act	p.A2866T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2866	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCATGTGGCTGAGGAGGG	0.542000													6	30					0	0	0.248553	0	0
TFEB	7942	broad.mit.edu	37	6	41655657	41655657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr6:41655657C>T	ENST00000394283.1	-	5	1885	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TFEB_ENST00000230323.4_Missense_Mutation_p.R220Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q			P19484	TFEB_HUMAN	transcription factor EB	220					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGTGAGCTCTCGCTTCTGGGT	0.612000			T	ALPHA	renal (childhood epithelioid)								14	53					0	0	0.479597	0	0
USP31	57478	broad.mit.edu	37	16	23117549	23117549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:23117549G>A	ENST00000219689.7	-	4	937	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGGGGCAGAGGAATTGGCAA	0.388000													9	46					0	0	0.335167	0	0
ZNF527	84503	broad.mit.edu	37	19	37879538	37879538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:37879538A>T	ENST00000436120.2	+	5	694	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATATTTATGATAAACTC	0.323000													7	68					0	0	0.307466	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728770	20728770	+	Missense_Mutation	SNP	T	T	G	rs61742876	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:20728770T>G	ENST00000427401.4	-	4	333	c.239A>C	c.(238-240)cAt>cCt	p.H80P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCGGGCAAAATGAGAACACGT	0.323000													4	19					0	0	0.184627	0	0
FAM192A	80011	broad.mit.edu	37	16	57188404	57188404	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr16:57188404T>G	ENST00000309137.8	-	7	821	c.563A>C	c.(562-564)aAg>aCg	p.K188T	FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T|FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	188						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TCCGAGAGACTTGCAGGATGA	0.557000													8	35					0	0	0.307466	0	0
ATP10B	23120	broad.mit.edu	37	5	160063201	160063201	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:160063201G>T	ENST00000327245.5	-	11	1962	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	372					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCAGGATGATCATTGTGA	0.493000													10	48					3.86212e-05	4.0954e-05	0.361761	1	0
NFXL1	152518	broad.mit.edu	37	4	47898591	47898591	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:47898591G>A	ENST00000507489.1	-	10	1454	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	NFXL1_ENST00000381538.3_Silent_p.I426I|NFXL1_ENST00000329043.3_Silent_p.I426I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	426						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACATCTATGGATTCCGCATT	0.373000													7	38					0	0	0.307466	0	0
KIF3A	11127	broad.mit.edu	37	5	132069993	132069993	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr5:132069993T>G	ENST00000378746.4	-	2	402	c.184A>C	c.(184-186)Act>Cct	p.T62P	KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P|KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	62	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATCAAAAGTAAATGTCTTT	0.368000													38	126					0	0	0.796494	0	0
CYC1	1537	broad.mit.edu	37	8	145150852	145150852	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr8:145150852G>C	ENST00000318911.4	+	2	319	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	71					0	0	0.411799	0	0
GRID1	2894	broad.mit.edu	37	10	87615919	87615919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr10:87615919A>G	ENST00000327946.7	-	7	1065	c.980T>C	c.(979-981)gTt>gCt	p.V327A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	327						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CAGCATCAGAACACTGTCATA	0.498000										Multiple Myeloma(13;0.14)			18	36					0	0	0.520397	0	0
TPST2	8459	broad.mit.edu	37	22	26932363	26932363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr22:26932363C>T	ENST00000338754.4	-	4	1202	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q|TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	311					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGCCATGTCCCGCACCACATC	0.602000													5	26					0	0	0.184627	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672743	77672743	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr13:77672743T>C	ENST00000407578.2	-	56	8812	c.8546A>G	c.(8545-8547)aAt>aGt	p.N2849S	MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N2811S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGGTAGATTTTTATCATG	0.483000													22	56					0	0	0.639603	0	0
C19orf35	374872	broad.mit.edu	37	19	2276476	2276476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr19:2276476C>T	ENST00000342063.3	-	4	718	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	209										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCGCCCCGGGCTTGGGC	0.701000													5	11					0	0	0.217242	0	0
CFTR	1080	broad.mit.edu	37	7	117292972	117292972	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:117292972A>C	ENST00000003084.6	+	24	4082	c.3950A>C	c.(3949-3951)aAa>aCa	p.K1317T	CFTR_ENST00000454343.1_Missense_Mutation_p.K1256T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1317	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAAATATGGAAAGTTGCAGAT	0.338000									Cystic Fibrosis				8	32					0	0	0.307466	0	0
PCLO	27445	broad.mit.edu	37	7	82585177	82585177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:82585177C>T	ENST00000423517.2	-	5	5429	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1698K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1629					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCAATTCTGGCTCTTCG	0.433000													8	26					0	0	0.278610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	52					0	0	0.184627	0	0
C16orf11	146325	broad.mit.edu	37	16	614994	614994	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:614994C>G	ENST00000409413.3	+	3	1682	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	468										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CTCGACCTCTCTGTGAAACGT	0.726000													3	13					0	0	0.115264	0	0
HIPK3	10114	broad.mit.edu	37	11	33308310	33308310	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:33308310A>G	ENST00000303296.4	+	2	655	c.350A>G	c.(349-351)cAt>cGt	p.H117R	HIPK3_ENST00000525975.1_Missense_Mutation_p.H117R|HIPK3_ENST00000379016.3_Missense_Mutation_p.H117R|HIPK3_ENST00000456517.1_Missense_Mutation_p.H117R	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	117					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AACAGATTGCATTTCCTAGAA	0.498000													11	39					0	0	0.361761	0	0
FOCAD	54914	broad.mit.edu	37	9	20981679	20981679	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:20981679G>C	ENST00000380249.1	+	40	4996	c.4632G>C	c.(4630-4632)aaG>aaC	p.K1544N	FOCAD_ENST00000605086.1_Missense_Mutation_p.K980N|FOCAD_ENST00000338382.6_Missense_Mutation_p.K1544N	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1544						integral to membrane	binding										TGCCAAATAAGATTCGGGTGA	0.448000													5	48					0	0	0.217242	0	0
ARL13A	392509	broad.mit.edu	37	X	100240775	100240775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:100240775A>T	ENST00000450049.2	+	4	363	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	84							GTP binding			endometrium(1)|ovary(1)	2						AGCATGGCCAAACTACTATGC	0.468000													15	23					0	0	0.457914	0	0
PEX11G	92960	broad.mit.edu	37	19	7550795	7550795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:7550795T>A	ENST00000221480.1	-	2	186	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	PEX11G_ENST00000593942.1_5'UTR	NM_080662.2	NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	60						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						AAGATGGTCCTGCAGTGGCTG	0.567000													17	42					0	0	0.500413	0	0
TAOK2	9344	broad.mit.edu	37	16	30002109	30002109	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:30002109G>A	ENST00000279394.3	+	18	2853	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	696	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCAGCTGCGGCTTGATGAG	0.592000													18	48					0	0	0.592651	0	0
WDR66	144406	broad.mit.edu	37	12	122369654	122369654	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:122369654C>T	ENST00000288912.4	+	4	1604	c.750C>T	c.(748-750)acC>acT	p.T250T	WDR66_ENST00000397454.2_Silent_p.T250T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	250							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTTCCAGACCATGACCTGGT	0.502000													3	25					0	0	0.115264	0	0
NAT8L	339983	broad.mit.edu	37	4	2065645	2065645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:2065645G>A	ENST00000423729.2	+	3	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K	NAT8L_ENST00000331662.3_Missense_Mutation_p.E66K	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	234	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			GAAGGTGCTGGAGTTCGCCGT	0.652000													6	24					0	0	0.217242	0	0
MIR891B	100126304	broad.mit.edu	37	X	145082599	145082599	+	RNA	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:145082599C>T	ENST00000401245.1	-	0	50					NR_030590.1																						aaacatgtgCCATTGAATGTT	0.378000													13	60					0	0	0.435327	0	0
FGF1	2246	broad.mit.edu	37	5	141974914	141974914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:141974914G>A	ENST00000359370.6	-	4	488	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	FGF1_ENST00000378046.1_Missense_Mutation_p.R137W|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000337706.2_Missense_Mutation_p.R137W|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.R137W|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000360966.5_3'UTR	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	137	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TAGTGAGTCCGAGGACCGCGT	0.478000													15	41					0	0	0.457914	0	0
BMP10	27302	broad.mit.edu	37	2	69093551	69093551	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:69093551G>T	ENST00000295379.1	-	2	645	c.487C>A	c.(487-489)Cgg>Agg	p.R163R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	163					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GTAATTTTCCGGTCTACTCCA	0.448000													3	33					0.115264	0.116678	0.115264	1	0
IGHD	3495	broad.mit.edu	37	14	106304821	106304821	+	RNA	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr14:106304821T>G	ENST00000390556.2	-	0	1125																											tagtatttcttattgcatttt	0.423000													3	6					0	0	0.115264	0	0
SERINC1	57515	broad.mit.edu	37	6	122777667	122777667	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:122777667T>C	ENST00000368454.1	-	5	659	c.330A>G	c.(328-330)aaA>aaG	p.K110K	SERINC1_ENST00000339697.3_Silent_p.K110K			Q9NRX5	SERC1_HUMAN	serine incorporator 1	110					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TACTCTTCACTTTGATCATTA	0.378000													11	38					0	0	0.411799	0	0
KCNF1	3754	broad.mit.edu	37	2	11053801	11053801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:11053801C>T	ENST00000295082.1	+	1	1739	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAACAAGCAGCGCGTCCTGGA	0.617000													6	20					0	0	0.217242	0	0
ADRA1A	148	broad.mit.edu	37	8	26627932	26627932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr8:26627932C>T	ENST00000380573.3	-	3	2158	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	ADRA1A_ENST00000276393.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V379M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V379M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V379M|ADRA1A_ENST00000380581.2_Intron			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	379					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGATCCCACGGGGATGCGC	0.552000													23	78					0	0	0.624587	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625998	77625998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr13:77625998T>C	ENST00000407578.2	-	81	13969	c.13703A>G	c.(13702-13704)tAt>tGt	p.Y4568C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y4530C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y4530C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTGGGATCATAATCATCTCC	0.428000													7	22					0	0	0.361761	0	0
FAT1	2195	broad.mit.edu	37	4	187524850	187524850	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:187524850G>C	ENST00000441802.2	-	19	11039	c.10830C>G	c.(10828-10830)taC>taG	p.Y3610*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3610	Cadherin 33.				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						CATTGAGAAGGTATTGCCCTA	0.498000										HNSCC(5;0.00058)			6	20					0	0	0.217242	0	0
COL27A1	85301	broad.mit.edu	37	9	116930511	116930511	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:116930511C>T	ENST00000356083.3	+	3	1067	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	226	Laminin G-like.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGTCGCTCACAATTACTG	0.557000													24	64					0	0	0.681144	0	0
WDR18	57418	broad.mit.edu	37	19	985937	985937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:985937G>A	ENST00000251289.5	+	2	306	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	WDR18_ENST00000587001.2_Missense_Mutation_p.V95I|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	95								p.V95I(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTCTACGTCCTGGCAGG	0.572000													4	37					0	0	0.184627	0	0
OR4N5	390437	broad.mit.edu	37	14	20612330	20612330	+	Silent	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr14:20612330T>C	ENST00000333629.1	+	1	436	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGCATTATCGTTGGTTCTGTG	0.498000													12	117					0	0	0.435327	0	0
DCST2	127579	broad.mit.edu	37	1	155006045	155006045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:155006045G>T	ENST00000368424.3	-	1	191	c.133C>A	c.(133-135)Cta>Ata	p.L45I	DCST2_ENST00000295536.5_Missense_Mutation_p.L45I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	45						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACCAGTAGCTCCAGAAGC	0.632000													14	69					1.5739e-10	1.69734e-10	0.500413	1	0
CHD9	80205	broad.mit.edu	37	16	53289642	53289642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:53289642C>T	ENST00000566029.1	+	19	4369	c.4160C>T	c.(4159-4161)aCa>aTa	p.T1387I	CHD9_ENST00000447540.1_Missense_Mutation_p.T1387I|CHD9_ENST00000398510.3_Missense_Mutation_p.T1387I|CHD9_ENST00000564845.1_Missense_Mutation_p.T1387I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1387					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTACGTCGTACAAAAACTATT	0.393000													21	197					0	0	0.608945	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627104	140627104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:140627104C>T	ENST00000231173.3	+	1	1958	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		653	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.697000													19	60					0	0	0.592651	0	0
MST1L	11223	broad.mit.edu	37	1	17085364	17085364	+	RNA	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:17085364G>A	ENST00000455405.2	-	0	3																											CAGGGCCCATGGCTATCCCCA	0.597000													3	49					0	0	0.150653	0	0
MAP7	9053	broad.mit.edu	37	6	136710510	136710510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:136710510C>G	ENST00000354570.3	-	4	800	c.390G>C	c.(388-390)caG>caC	p.Q130H	MAP7_ENST00000454590.1_Missense_Mutation_p.Q152H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.Q115H|MAP7_ENST00000438100.2_Missense_Mutation_p.Q152H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	130					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCTCAAGTCTCTGCCTCCGCT	0.562000													20	89					0	0	0.608945	0	0
CKAP2	26586	broad.mit.edu	37	13	53048164	53048164	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr13:53048164A>G	ENST00000378037.5	+	8	1840	c.1750A>G	c.(1750-1752)Acg>Gcg	p.T584A	CKAP2_ENST00000490903.1_Missense_Mutation_p.T535A|CKAP2_ENST00000258607.5_Missense_Mutation_p.T583A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	584					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAATACAGAAACGAGGACAAG	0.328000													12	43					0	0	0.411799	0	0
DCHS1	8642	broad.mit.edu	37	11	6662135	6662135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:6662135G>T	ENST00000299441.3	-	2	1121	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGCCTGGGCCCTCCGGGG	0.597000													25	115					1.42536e-11	1.54726e-11	0.681144	1	0
UPP1	7378	broad.mit.edu	37	7	48146983	48146983	+	Silent	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:48146983C>G	ENST00000331803.4	+	9	1295	c.672C>G	c.(670-672)ctC>ctG	p.L224L	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Silent_p.L224L|UPP1_ENST00000395564.4_Silent_p.L224L|UPP1_ENST00000429491.2_Silent_p.L87L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	224					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ATGGGGCTCTCTGCTCCTACA	0.582000													21	36					0	0	0.639603	0	0
CDKL5	6792	broad.mit.edu	37	X	18668577	18668577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:18668577G>A	ENST00000379989.3	+	21	3130	c.2845G>A	c.(2845-2847)Gtc>Atc	p.V949I	RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.V949I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	949					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTCCGTGCGTCCCAAACCG	0.582000													23	59					0	0	0.654019	0	0
GOLGA1	2800	broad.mit.edu	37	9	127652667	127652667	+	Splice_Site	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:127652667C>A	ENST00000373555.4	-	16	1831		c.e16+1			NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1							Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ACAGGGCCCACCTGTTGCTGG	0.597000													4	57					0.00909568	0.00932166	0.150653	1	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115271	27115271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:27115271G>A	ENST00000377459.1	+	1	411	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGAAGACTGAGAGCCACCA	0.522000													5	43					0	0	0.217242	0	0
PJA1	64219	broad.mit.edu	37	X	68381831	68381831	+	Silent	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:68381831A>C	ENST00000361478.1	-	2	1628	c.1251T>G	c.(1249-1251)ccT>ccG	p.P417P	PJA1_ENST00000374571.4_Silent_p.P362P|PJA1_ENST00000374583.1_Silent_p.P417P|PJA1_ENST00000374584.3_Silent_p.P229P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	417							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CACCGGGGCCAGGGCTGGTGC	0.622000													8	55					0	0	0.335167	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704198	117704198	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:117704198A>G	ENST00000355044.3	+	29	4174	c.4048A>G	c.(4048-4050)Att>Gtt	p.I1350V	ATRNL1_ENST00000423111.2_Missense_Mutation_p.I401V|ATRNL1_ENST00000303745.7_Missense_Mutation_p.I143V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1350						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTAATAGATATTTCACAACA	0.423000													22	49					0	0	0.608945	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156431	70156431	+	Silent	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:70156431T>A	ENST00000335568.5	+	5	1214	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	404					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATAACATTGCTCACATGAAGG	0.453000													21	129					0	0	0.769981	0	0
GP5	2814	broad.mit.edu	37	3	194118839	194118839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:194118839A>T	ENST00000401815.1	-	1	244	c.173T>A	c.(172-174)tTc>tAc	p.F58Y	GP5_ENST00000323007.3_Missense_Mutation_p.F58Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	58					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCCATTCCGAAGAGCAGGAT	0.677000													46	73					0	0	0.870114	0	0
ADCYAP1	116	broad.mit.edu	37	18	909585	909585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr18:909585G>C	ENST00000579794.1	+	4	758	c.480G>C	c.(478-480)aaG>aaC	p.K160N	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.K160N	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	160					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTAGGGAAGAGGTATAAAC	0.507000													13	194					0	0	0.435327	0	0
PRDM10	56980	broad.mit.edu	37	11	129827743	129827743	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:129827743G>A	ENST00000358825.5	-	3	363	c.132C>T	c.(130-132)cgC>cgT	p.R44R	PRDM10_ENST00000360871.3_Silent_p.R44R|PRDM10_ENST00000528746.1_Silent_p.R44R	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCTGTGGGGGGCGAACCTGGT	0.537000													51	182					0	0	0.870114	0	0
HERC4	26091	broad.mit.edu	37	10	69748547	69748547	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:69748547A>G	ENST00000395198.3	-	15	1926	c.1679T>C	c.(1678-1680)gTa>gCa	p.V560A	HERC4_ENST00000412272.2_Missense_Mutation_p.V560A|HERC4_ENST00000373700.4_Missense_Mutation_p.V560A|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.V450A	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	560					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTTCTACTATCTTGAG	0.318000													7	198					0	0	0.307466	0	0
HRC	3270	broad.mit.edu	37	19	49657913	49657913	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:49657913C>T	ENST00000252825.4	-	1	768	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HRC_ENST00000595625.1_Silent_p.E194E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	194	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E194E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcctcctcttcTCCTT	0.557000													4	56					0	0	0.184627	0	0
CTIF	9811	broad.mit.edu	37	18	46238063	46238063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr18:46238063G>A	ENST00000256413.3	+	7	876	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CTIF_ENST00000382998.4_Missense_Mutation_p.R194Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	194	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGAAATGATCGAAGGTAGGAG	0.547000											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	71					0	0	0.769981	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257171	9257171	+	Silent	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr18:9257171A>G	ENST00000383440.2	+	8	4094	c.3837A>G	c.(3835-3837)agA>agG	p.R1279R	ANKRD12_ENST00000400020.3_Silent_p.R1279R|ANKRD12_ENST00000262126.3_Silent_p.R1302R	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1302						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGAGGGGAGACCTACCATAG	0.398000													50	70					0	0	0.870114	0	0
TMEM56	148534	broad.mit.edu	37	1	95615767	95615767	+	Silent	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:95615767T>G	ENST00000370203.4	+	4	540	c.249T>G	c.(247-249)ggT>ggG	p.G83G	RP11-57H12.6_ENST00000604534.1_Silent_p.G83G|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	83	TLC.					integral to membrane		p.G83G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTTTCAGGGGTGGTCCATCAC	0.323000													8	39					0	0	0.457914	0	0
DNA2	1763	broad.mit.edu	37	10	70204742	70204742	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:70204742T>C	ENST00000399180.2	-	8	1413	c.1414A>G	c.(1414-1416)Ata>Gta	p.I472V	DNA2_ENST00000399179.2_Missense_Mutation_p.I386V|DNA2_ENST00000358410.3_Missense_Mutation_p.I386V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	386					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCCTCAATTATTTGTGGCAAA	0.343000													20	44					0	0	0.557998	0	0
GON4L	54856	broad.mit.edu	37	1	155736338	155736338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:155736338C>T	ENST00000437809.1	-	21	3048	c.2926G>A	c.(2926-2928)Ggt>Agt	p.G976S	GON4L_ENST00000368331.1_Missense_Mutation_p.G976S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G976S|GON4L_ENST00000271883.5_Missense_Mutation_p.G976S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	976					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGACTACACCCTTAGGCAAT	0.498000													19	66					0	0	0.557998	0	0
UGDH	7358	broad.mit.edu	37	4	39512453	39512453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:39512453A>G	ENST00000316423.6	-	4	635	c.293T>C	c.(292-294)aTg>aCg	p.M98T	UGDH_ENST00000507089.1_Start_Codon_SNP_p.M1T|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.M98T|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	98					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GCCTTTCCCCATTCCATAGGT	0.413000													20	67					0	0	0.592651	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974084	56974084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:56974084C>T	ENST00000439977.2	+	6	1029	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	HERPUD1_ENST00000300302.5_Missense_Mutation_p.L277F|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.L253F|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	278						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTGTTTTTCTCAGTATCCT	0.433000			T	ERG	prostate								81	70					0	0	0.870114	0	0
TTC39B	158219	broad.mit.edu	37	9	15185309	15185309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:15185309G>A	ENST00000355694.2	-	16	1619	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	TTC39B_ENST00000507993.1_Missense_Mutation_p.P363L|TTC39B_ENST00000297615.5_Missense_Mutation_p.P459L|TTC39B_ENST00000380850.4_Missense_Mutation_p.P515L|TTC39B_ENST00000512701.1_Missense_Mutation_p.P528L|TTC39B_ENST00000507285.1_Missense_Mutation_p.P363L	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	462							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CACAGGTGCAGGTAAGGAGGC	0.473000													43	102					0	0	0.840704	0	0
CDH3	1001	broad.mit.edu	37	16	68712178	68712178	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:68712178C>G	ENST00000264012.4	+	4	932	c.388C>G	c.(388-390)Cag>Gag	p.Q130E	CDH3_ENST00000581171.1_Missense_Mutation_p.Q75E|CDH3_ENST00000429102.2_Missense_Mutation_p.Q130E	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GAGACTGAATCAGGTACGACT	0.527000													9	34					0	0	0.335167	0	0
CSRP3	8048	broad.mit.edu	37	11	19209725	19209725	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:19209725A>T	ENST00000533783.1	-	4	479	c.239T>A	c.(238-240)cTc>cAc	p.L80H	CSRP3_ENST00000265968.3_Missense_Mutation_p.L80H	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	80					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GTCTGTGCTGAGACAGCCAGC	0.567000													18	97					0	0	0.520397	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156462	70156462	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:70156462C>T	ENST00000335568.5	+	5	1245	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	415					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGCTGTTAGACTGGACTTCCA	0.443000													12	138					0	0	0.681144	0	0
LRRK2	120892	broad.mit.edu	37	12	40715964	40715964	+	Silent	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:40715964A>T	ENST00000298910.7	+	36	5356	c.5298A>T	c.(5296-5298)acA>acT	p.T1766T		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1766					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAAATTACAGTTCCTTCTT	0.303000													9	35					0	0	0.307466	0	0
RBM42	79171	broad.mit.edu	37	19	36124784	36124784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:36124784G>A	ENST00000262633.4	+	7	985	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RBM42_ENST00000588161.1_Missense_Mutation_p.E264K|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.E272K|RBM42_ENST00000592202.1_Missense_Mutation_p.E240K|RBM42_ENST00000360475.4_Missense_Mutation_p.E265K|RBM42_ENST00000589559.1_Missense_Mutation_p.E265K	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	294	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCATTGCCCGAGCCTGAGCC	0.746000													4	8					0	0	0.217242	0	0
HR	55806	broad.mit.edu	37	8	21986633	21986633	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr8:21986633C>T	ENST00000381418.4	-	2	1531	c.51G>A	c.(49-51)acG>acA	p.T17T	HR_ENST00000312841.8_Silent_p.T17T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	17							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCTCTGGGGCCGTCTTCTCCC	0.652000													4	78					0	0	0.150653	0	0
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612000													46	173					0	0	0.870114	0	0
MTOR	2475	broad.mit.edu	37	1	11297982	11297982	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:11297982T>C	ENST00000361445.4	-	13	2202	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	709					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GATGGCCAGCTCCCGGATCTC	0.582000													12	33					0	0	0.411799	0	0
DCST1	149095	broad.mit.edu	37	1	155018958	155018958	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:155018958C>A	ENST00000295542.1	+	13	1587	c.1491C>A	c.(1489-1491)ttC>ttA	p.F497L	DCST1_ENST00000392480.1_Missense_Mutation_p.F497L|DCST1_ENST00000368419.2_Missense_Mutation_p.F497L|DCST1_ENST00000423025.2_Missense_Mutation_p.F472L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	497						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGTACTCCTTCCGCAGTAAGC	0.582000													10	36					0.010729	0.0109277	0.387290	1	0
PRAMEF16	654348	broad.mit.edu	37	1	13497673	13497673	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:13497673G>C	ENST00000376121.3	+	3	1000	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	324												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCTAAAGGAGCTGCATCT	0.473000													10	93					0	0	0.769981	0	0
CADM2	253559	broad.mit.edu	37	3	86114798	86114798	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:86114798C>T	ENST00000383699.3	+	9	1641	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	CADM2_ENST00000405615.2_Silent_p.L371L|CADM2_ENST00000407528.2_Silent_p.L369L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	369	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCATGCTCTCATAGGAGGAA	0.403000													6	18					0	0	0.248553	0	0
IL24	11009	broad.mit.edu	37	1	207072852	207072852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:207072852G>A	ENST00000367093.3	+	3	509	c.235G>A	c.(235-237)Gac>Aac	p.D79N	IL24_ENST00000391929.3_Missense_Mutation_p.D79N|IL24_ENST00000294984.2_Missense_Mutation_p.D78N|IL24_ENST00000491169.1_Intron	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	78					apoptosis	extracellular space	cytokine activity			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGCTGTGAAAGACACTATGGT	0.572000													15	56					0	0	0.457914	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597369	136597369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:136597369C>T	ENST00000531224.1	-	5	1546	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	432					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTTCCTCCTCAGTATTCCGG	0.413000													13	218					0	0	0.457914	0	0
PQLC2	54896	broad.mit.edu	37	1	19653876	19653876	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:19653876C>T	ENST00000375153.3	+	7	1414	c.774C>T	c.(772-774)ggC>ggT	p.G258G	PQLC2_ENST00000400548.2_Silent_p.G193G|PQLC2_ENST00000375155.3_Silent_p.G258G	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	258						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTGTGGGCAGCCTGGGCG	0.652000													8	32					0	0	0.278610	0	0
MIB1	57534	broad.mit.edu	37	18	19424087	19424087	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr18:19424087A>T	ENST00000261537.6	+	15	2348	c.2084A>T	c.(2083-2085)cAg>cTg	p.Q695L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	695					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTTGATATTCAGGATAAGGAT	0.433000													7	63					0	0	0.278610	0	0
RRH	10692	broad.mit.edu	37	4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:110758732G>T	ENST00000317735.4	+	5	725	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	231					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403000													7	23					0.000157383	0.000164356	0.278610	1	0
CCDC60	160777	broad.mit.edu	37	12	119917004	119917004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:119917004C>G	ENST00000327554.2	+	4	912	c.447C>G	c.(445-447)caC>caG	p.H149Q	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	149										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCGAGGCTCACGTGTAAGTAG	0.478000													5	28					0	0	0.217242	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	97					0	0	0.184627	0	0
ITGA7	3679	broad.mit.edu	37	12	56091493	56091493	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:56091493G>A	ENST00000257880.7	-	10	1746	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	ITGA7_ENST00000555728.1_Silent_p.T509T|ITGA7_ENST00000452168.2_Silent_p.T372T|ITGA7_ENST00000553804.1_Silent_p.T469T|ITGA7_ENST00000394230.2_Silent_p.T469T|ITGA7_ENST00000347027.6_Silent_p.T465T|ITGA7_ENST00000394229.2_Silent_p.T465T|ITGA7_ENST00000257879.6_Silent_p.T465T			Q13683	ITA7_HUMAN	integrin, alpha 7	509					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGAGCACTGCGGTGTCAGCCA	0.597000													19	53					0	0	0.575678	0	0
ST5	6764	broad.mit.edu	37	11	8728695	8728695	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:8728695C>T	ENST00000534127.1	-	16	2893	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S	ST5_ENST00000534278.1_Silent_p.S27S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Silent_p.S308S|ST5_ENST00000526099.1_Silent_p.S349S|ST5_ENST00000526757.1_Silent_p.S416S|ST5_ENST00000357665.1_Silent_p.S836S|ST5_ENST00000313726.6_Silent_p.S836S|ST5_ENST00000530438.1_Silent_p.S416S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	836	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGAAGGGCGACTCCATGA	0.592000													11	33					0	0	0.361761	0	0
CCDC80	151887	broad.mit.edu	37	3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473000													3	38					0	0	0.115264	0	0
SYNE1	23345	broad.mit.edu	37	6	152694261	152694261	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:152694261C>T	ENST00000367255.5	-	59	10019	c.9418G>A	c.(9418-9420)Gcg>Acg	p.A3140T	SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCCTTTCGCTTTCTCTTTG	0.393000										HNSCC(10;0.0054)			29	118					0	0	0.729181	0	0
TCERG1	10915	broad.mit.edu	37	5	145878147	145878147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:145878147C>G	ENST00000296702.5	+	16	2318	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	TCERG1_ENST00000394421.2_Missense_Mutation_p.F739L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	760	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAAGATTCAAAGCAATTG	0.388000													16	43					0	0	0.539581	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156461	70156461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:70156461A>T	ENST00000335568.5	+	5	1244	c.1242A>T	c.(1240-1242)agA>agT	p.R414S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	414					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CAGCTGTTAGACTGGACTTCC	0.443000													12	132					0	0	0.681144	0	0
DLG5	9231	broad.mit.edu	37	10	79569435	79569435	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:79569435T>C	ENST00000372391.2	-	24	4522	c.4517A>G	c.(4516-4518)aAa>aGa	p.K1506R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.K1166R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1506	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGACTTTTTGATGAAGAC	0.542000													70	162					0	0	0.870114	0	0
FAM161A	84140	broad.mit.edu	37	2	62067206	62067206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:62067206C>A	ENST00000404929.1	-	3	944	c.933G>T	c.(931-933)aaG>aaT	p.K311N	FAM161A_ENST00000405894.3_Missense_Mutation_p.K311N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	311					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCTCCTTCAGAGACC	0.443000													17	132					4.96729e-08	5.25386e-08	0.575678	1	0
SPRY2	10253	broad.mit.edu	37	13	80911560	80911560	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr13:80911560A>C	ENST00000377102.1	-	2	1258	c.281T>G	c.(280-282)cTc>cGc	p.L94R	SPRY2_ENST00000377104.3_Missense_Mutation_p.L94R|SPRY2_ENST00000540649.1_Missense_Mutation_p.L94R			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	94					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CGAGTGCTGGAGCCTAGGAGG	0.622000													17	62					0	0	0.539581	0	0
FAM172A	83989	broad.mit.edu	37	5	93294538	93294538	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:93294538T>C	ENST00000395965.3	-	6	653	c.511A>G	c.(511-513)Ata>Gta	p.I171V	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.I125V|FAM172A_ENST00000509739.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	171						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTTCATTTATAATAAGTCTT	0.388000													16	81					0	0	0.575678	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011580	46011580	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr21:46011580G>T	ENST00000400368.1	-	1	806	c.786C>A	c.(784-786)acC>acA	p.T262T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	262	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGGGGAGGAGGTGCAGCAAG	0.652000													28	84					2.68265e-12	2.93137e-12	0.769981	1	0
OR6B2	389090	broad.mit.edu	37	2	240969562	240969562	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:240969562G>T	ENST00000402971.2	-	1	344	c.285C>A	c.(283-285)gtC>gtA	p.V95V		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCATGCACCCGACGAAAGAGA	0.577000													8	46					1.76689e-08	1.8931e-08	0.335167	1	0
ABHD10	55347	broad.mit.edu	37	3	111697969	111697969	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:111697969G>T	ENST00000273359.3	+	1	88	c.61G>T	c.(61-63)Gca>Tca	p.A21S	ABHD10_ENST00000494817.1_Missense_Mutation_p.A21S|ABHD10_ENST00000534857.1_5'UTR	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	21						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CTGGGGCTGGGCAGCCGTCCC	0.687000													6	31					0.00116845	0.00121254	0.217242	1	0
DLX1	1745	broad.mit.edu	37	2	172951395	172951395	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:172951395G>A	ENST00000361725.4	+	2	779	c.327G>A	c.(325-327)gaG>gaA	p.E109E	DLX1_ENST00000341900.6_Intron	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGGACTCGGAGAAGAGCACGG	0.567000													21	90					0	0	0.608945	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr17:7578479G>T	ENST00000420246.2	-	5	583	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612000		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)			25	33					3.65163e-15	4.07107e-15	0.706142	1	0
NPY	4852	broad.mit.edu	37	7	24324986	24324986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:24324986G>A	ENST00000407573.1	+	3	417	c.127G>A	c.(127-129)Gag>Aag	p.E43K	NPY_ENST00000405982.1_Missense_Mutation_p.E43K|NPY_ENST00000242152.2_Missense_Mutation_p.E43K			P01303	NPY_HUMAN	neuropeptide Y	43					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGCACCAGCGGAGGACATGGC	0.682000													7	27					0	0	0.248553	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156926233	156926233	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:156926233C>T	ENST00000368194.3	-	19	2689	c.1650G>A	c.(1648-1650)ccG>ccA	p.P550P	ARHGEF11_ENST00000361409.2_Silent_p.P510P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	510					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGGAAGAACGGTAGCCACT	0.552000													21	86					0	0	0.592651	0	0
DCAF13	25879	broad.mit.edu	37	8	104453792	104453792	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr8:104453792C>G	ENST00000297579.5	+	10	1929	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	399					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTACCAAAATCTATCTATAGC	0.393000													26	112					0	0	0.706142	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507028	44507028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr20:44507028G>A	ENST00000255152.2	+	2	2040	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E605K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	611							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGGCCAGCCTGAGAAGCAAGG	0.587000													18	80					0	0	0.557998	0	0
CASP8	841	broad.mit.edu	37	2	202131498	202131498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr2:202131498C>T	ENST00000358485.4	+	2	662	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q97*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.Q97*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.Q97*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q97*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	97	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGGCAGGGCTCAAATTTCTGC	0.488000										HNSCC(4;0.00038)			5	18					0	0	0.184627	0	0
CD1E	913	broad.mit.edu	37	1	158326543	158326543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:158326543C>T	ENST00000444681.2	+	5	1020	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.H342Y|CD1E_ENST00000368154.1_Missense_Mutation_p.H98Y|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H252Y|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.H153Y	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	342	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTTTCTCCCCACACACCCAG	0.413000													9	50					0	0	0.335167	0	0
EVI5L	115704	broad.mit.edu	37	19	7916349	7916349	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:7916349C>T	ENST00000270530.4	+	7	979	c.783C>T	c.(781-783)ttC>ttT	p.F261F	EVI5L_ENST00000538904.2_Silent_p.F261F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	261	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTCCGTTCCCAAA	0.647000													11	68					0	0	0.411799	0	0
FOXP1	27086	broad.mit.edu	37	3	71247175	71247175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr3:71247175C>T	ENST00000318779.3	-	7	700	c.225G>A	c.(223-225)tgG>tgA	p.W75*	FOXP1_ENST00000318789.4_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000493089.1_Intron	NM_001012505.1	NP_001012523.1	Q9H334	FOXP1_HUMAN	forkhead box P1	0	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCTCTTAAGCCAACTGCTGG	0.517000			T	PAX5	ALL								11	31					0	0	0.361761	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457855	100457855	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:100457855G>A	ENST00000354161.3	+	9	1343		c.e9+1		SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site|SLC12A9_ENST00000475623.1_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9							integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTGGTGCAGGTGAGCCTTCT	0.562000													8	26					0	0	0.278610	0	0
SLC47A2	146802	broad.mit.edu	37	17	19605988	19605988	+	Splice_Site	SNP	C	C	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr17:19605988C>G	ENST00000350657.5	-	14	1311		c.e14-1		SLC47A2_ENST00000463318.1_Splice_Site|SLC47A2_ENST00000325411.5_Splice_Site	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2							integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AATGACATCTCTGCAGAAGAA	0.453000													6	13					0	0	0.217242	0	0
ZNF320	162967	broad.mit.edu	37	19	53384668	53384668	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:53384668T>A	ENST00000595635.1	-	8	1212	c.711A>T	c.(709-711)agA>agT	p.R237S	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R237S|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CAGTATGACTTCTATGATGAC	0.398000													10	66					0	0	0.361761	0	0
XIST	7503	broad.mit.edu	37	X	73062364	73062364	+	RNA	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:73062364A>G	ENST00000429829.1	-	0	10224					NR_001564.2																						TTATCCACCTAGTTCAGGCCT	0.423000													3	27					0	0	0.150653	0	0
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:71717271C>T	ENST00000393695.3	-	22	5833	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_ENST00000351960.6_Silent_p.S698S|NUMA1_ENST00000358965.6_Silent_p.S1820S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552000			T	RARA	APL								6	56					0	0	0.248553	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959641	117959641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:117959641C>T	ENST00000310164.2	+	4	941	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggggagaaagcctccctttat	0.483000													35	110					0	0	0.788014	0	0
CHURC1	91612	broad.mit.edu	37	14	65390788	65390788	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr14:65390788T>C	ENST00000607599.1	+	2	254	c.200T>C	c.(199-201)cTg>cCg	p.L67P	CHURC1_ENST00000552002.2_Missense_Mutation_p.L40P|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.L40P|CHURC1_ENST00000359118.2_Missense_Mutation_p.L40P|CHURC1_ENST00000549115.1_Missense_Mutation_p.L67P|CHURC1_ENST00000548752.2_Missense_Mutation_p.L67P|CHURC1-FNTB_ENST00000542227.1_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GATTTTATGCTGATCACAAAC	0.383000													14	63					0	0	0.500413	0	0
CEP44	80817	broad.mit.edu	37	4	175232005	175232005	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:175232005T>G	ENST00000503780.1	+	9	1371	c.957T>G	c.(955-957)aaT>aaG	p.N319K	CEP44_ENST00000426172.1_Missense_Mutation_p.N319K|CEP44_ENST00000457424.2_Missense_Mutation_p.N319K|CEP44_ENST00000296519.4_Missense_Mutation_p.N319K	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	319						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ACCTTCTGAATCCTCGTAAGT	0.274000													22	65					0	0	0.624587	0	0
THSD7A	221981	broad.mit.edu	37	7	11630197	11630197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:11630197C>T	ENST00000423059.3	-	4	1594	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	448	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGTTGCCGCGCCTCTTGTC	0.557000										HNSCC(18;0.044)			9	29					0	0	0.307466	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:140188217C>T	ENST00000530339.1	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482V	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657000													16	59					0	0	0.575678	0	0
SMTN	6525	broad.mit.edu	37	22	31492832	31492832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr22:31492832G>A	ENST00000333137.7	+	14	2193	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	SMTN_ENST00000358743.1_Missense_Mutation_p.D659N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.D659N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	659					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCGGGCAGCTGATGGCTCTGC	0.687000													19	55					0	0	0.639603	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661382	77661382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:77661382G>A	ENST00000296043.6	+	5	3009	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	686					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGAACCCAGGAGGGTTACCC	0.607000													53	72					0	0	0.870114	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								3	26					0	0	0.115264	0	0
KIAA1919	91749	broad.mit.edu	37	6	111587430	111587430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:111587430G>A	ENST00000368847.4	+	4	1018	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	222					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)		GAGACATTTCGAAGAGCAAAA	0.343000													13	32					0	0	0.411799	0	0
PLOD3	8985	broad.mit.edu	37	7	100859997	100859997	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:100859997C>T	ENST00000223127.3	-	2	578	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	60					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTGAAGAACTCCGCAGAGC	0.607000													7	30					0	0	0.307466	0	0
VCAN	1462	broad.mit.edu	37	5	82817939	82817939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:82817939G>A	ENST00000265077.3	+	7	4379	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	VCAN_ENST00000342785.4_Missense_Mutation_p.E1272K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1224K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1272	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGGAAACAGAAACCGATAT	0.453000													10	68					0	0	0.335167	0	0
TKTL2	84076	broad.mit.edu	37	4	164394114	164394114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:164394114G>T	ENST00000280605.3	-	1	933	c.773C>A	c.(772-774)gCa>gAa	p.A258E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	258						cytoplasm	metal ion binding|transketolase activity	p.A258V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAATTTTCTGCATCCTCAAT	0.408000													24	93					5.61819e-17	6.30613e-17	0.693898	1	0
IRS4	8471	broad.mit.edu	37	X	107979062	107979062	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:107979062G>A	ENST00000372129.2	-	1	589	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	171	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGTCTTGGGTGAAAAGAGCAA	0.597000													7	55					0	0	0.248553	0	0
COL5A1	1289	broad.mit.edu	37	9	137716559	137716559	+	Silent	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:137716559C>T	ENST00000371817.3	+	62	5226	c.4812C>T	c.(4810-4812)taC>taT	p.Y1604Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1604	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACGTGGACTACGCGGACGGCA	0.622000													12	29					0	0	0.435327	0	0
MCF2	4168	broad.mit.edu	37	X	138724625	138724625	+	Splice_Site	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:138724625A>T	ENST00000370576.4	-	1	261		c.e1+1		MCF2_ENST00000370578.4_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000338585.6_Splice_Site|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Splice_Site|MCF2_ENST00000536274.1_Splice_Site	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAGAGCCCTTACCGCATTCCT	0.488000													32	154					0	0	0.769981	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													3	37					0	0	0.184627	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													5	14					0	0	0.217242	0	0
ROS1	6098	broad.mit.edu	37	6	117687343	117687343	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:117687343A>C	ENST00000368508.3	-	18	2906	c.2708T>G	c.(2707-2709)aTt>aGt	p.I903S	ROS1_ENST00000368507.3_Missense_Mutation_p.I898S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	903					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTGTGATAATCCTAAAGCC	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	106					0	0	0.520397	0	0
NUDT12	83594	broad.mit.edu	37	5	102894926	102894926	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:102894926A>T	ENST00000230792.2	-	3	546	c.450T>A	c.(448-450)ttT>ttA	p.F150L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F132L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	150						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGAAAAGAATAAAAACTGTGG	0.378000													8	42					0	0	0.307466	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867251	2867251	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr17:2867251G>C	ENST00000254695.8	+	7	471	c.381G>C	c.(379-381)ggG>ggC	p.G127G	RAP1GAP2_ENST00000366401.4_Silent_p.G112G|RAP1GAP2_ENST00000542807.1_Silent_p.G127G|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000540393.2_Silent_p.G108G	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	127					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCGCTGGGGAGCAGCATCT	0.602000													11	35					0	0	0.361761	0	0
SON	6651	broad.mit.edu	37	21	34932318	34932318	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr21:34932318G>A	ENST00000300278.4	+	7	6822	c.6793G>A	c.(6793-6795)Gtt>Att	p.V2265I	SON_ENST00000381692.2_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000290239.6_Intron	NM_032195.1	NP_115571.1	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAGAACAGTGTTATCACATC	0.458000													17	31					0	0	0.557998	0	0
ZNF107	51427	broad.mit.edu	37	7	64167053	64167053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr7:64167053G>A	ENST00000395391.1	+	4	1746	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF107_ENST00000423627.1_Missense_Mutation_p.R124K|ZNF107_ENST00000344930.3_Missense_Mutation_p.R124K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R124I(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAGCATAGAAGAATTCATACT	0.328000													6	27					0	0	0.248553	0	0
EMC2	9694	broad.mit.edu	37	8	109465334	109465334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr8:109465334G>C	ENST00000220853.3	+	4	298	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		GGCAGTCACAGAGTCAAGCGA	0.398000													5	38					0	0	0.307466	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558908	140558908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:140558908G>C	ENST00000239444.2	+	1	1538	c.1293G>C	c.(1291-1293)agG>agC	p.R431S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACACCCAGGCTGACAACAC	0.532000													19	69					0	0	0.539581	0	0
DOCK11	139818	broad.mit.edu	37	X	117775197	117775197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chrX:117775197G>T	ENST00000276204.6	+	39	4263	c.4189G>T	c.(4189-4191)Gaa>Taa	p.E1397*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E1397*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1397					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGCACTTCTTGAAGGCAATAC	0.368000													20	62					1.1804e-14	1.29844e-14	0.667858	1	0
ARID5B	84159	broad.mit.edu	37	10	63661489	63661489	+	Splice_Site	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:63661489G>A	ENST00000279873.7	+	1	431	c.21_splice	c.e1+1	p.Q7_splice		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	7					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTCACTCCAGGTATTTCGCT	0.587000													7	32					0	0	0.278610	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923092	43923092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:43923092G>C	ENST00000302708.4	+	8	897	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	162					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GCACACTAAAGAACCGCATTG	0.488000								Direct reversal of damage					11	32					0	0	0.411799	0	0
VARS	7407	broad.mit.edu	37	6	31749380	31749380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:31749380C>T	ENST00000375663.3	-	21	2862	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	808					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCAGGTCTTCTGACTGAGGG	0.637000													13	40					0	0	0.435327	0	0
DACH1	1602	broad.mit.edu	37	13	72440352	72440352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr13:72440352G>A	ENST00000305425.4	-	1	978	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q186*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q186*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.Q186*	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATTATTCTGAGGGGTGTTT	0.607000													7	21					0	0	0.248553	0	0
DNAH10	196385	broad.mit.edu	37	12	124371815	124371815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:124371815G>A	ENST00000409039.3	+	51	8621	c.8596G>A	c.(8596-8598)Gct>Act	p.A2866T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2866	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCATGTGGCTGAGGAGGG	0.542000													6	30					0	0	0.248553	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													10	4					0	0	0.387290	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													3	38					0	0	0.115264	0	0
TFEB	7942	broad.mit.edu	37	6	41655657	41655657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:41655657C>T	ENST00000394283.1	-	5	1885	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TFEB_ENST00000358871.2_Missense_Mutation_p.R234Q|TFEB_ENST00000230323.4_Missense_Mutation_p.R220Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R220Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R135Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R220Q			P19484	TFEB_HUMAN	transcription factor EB	220					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TGTGAGCTCTCGCTTCTGGGT	0.612000			T	ALPHA	renal (childhood epithelioid)								14	53					0	0	0.479597	0	0
USP31	57478	broad.mit.edu	37	16	23117549	23117549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:23117549G>A	ENST00000219689.7	-	4	937	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	313					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTGGGGCAGAGGAATTGGCAA	0.388000													9	46					0	0	0.335167	0	0
ZNF527	84503	broad.mit.edu	37	19	37879538	37879538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:37879538A>T	ENST00000436120.2	+	5	694	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATATTTATGATAAACTC	0.323000													7	68					0	0	0.307466	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728770	20728770	+	Missense_Mutation	SNP	T	T	G	rs61742876	by1000genomes	TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:20728770T>G	ENST00000427401.4	-	4	333	c.239A>C	c.(238-240)cAt>cCt	p.H80P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCGGGCAAAATGAGAACACGT	0.323000													4	19					0	0	0.184627	0	0
FAM192A	80011	broad.mit.edu	37	16	57188404	57188404	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr16:57188404T>G	ENST00000309137.8	-	7	821	c.563A>C	c.(562-564)aAg>aCg	p.K188T	FAM192A_ENST00000567439.1_Missense_Mutation_p.K188T|FAM192A_ENST00000389447.5_Missense_Mutation_p.K188T|FAM192A_ENST00000566077.1_Missense_Mutation_p.K111T|FAM192A_ENST00000569266.1_Missense_Mutation_p.K188T|FAM192A_ENST00000564108.1_Missense_Mutation_p.K188T	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	188						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TCCGAGAGACTTGCAGGATGA	0.557000													8	35					0	0	0.307466	0	0
ATP10B	23120	broad.mit.edu	37	5	160063201	160063201	+	Silent	SNP	G	G	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:160063201G>T	ENST00000327245.5	-	11	1962	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	372					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCAGGATGATCATTGTGA	0.493000													10	48					3.86212e-05	4.05892e-05	0.361761	1	0
NFXL1	152518	broad.mit.edu	37	4	47898591	47898591	+	Silent	SNP	G	G	A			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr4:47898591G>A	ENST00000507489.1	-	10	1454	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	NFXL1_ENST00000329043.3_Silent_p.I426I|NFXL1_ENST00000381538.3_Silent_p.I426I	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	426						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AACATCTATGGATTCCGCATT	0.373000													7	38					0	0	0.307466	0	0
KIF3A	11127	broad.mit.edu	37	5	132069993	132069993	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr5:132069993T>G	ENST00000378746.4	-	2	402	c.184A>C	c.(184-186)Act>Cct	p.T62P	KIF3A_ENST00000403231.1_Missense_Mutation_p.T62P|KIF3A_ENST00000378735.1_Missense_Mutation_p.T62P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	62	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATCAAAAGTAAATGTCTTT	0.368000													38	126					0	0	0.796494	0	0
CYC1	1537	broad.mit.edu	37	8	145150852	145150852	+	Silent	SNP	G	G	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr8:145150852G>C	ENST00000318911.4	+	2	319	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	71					0	0	0.411799	0	0
GRID1	2894	broad.mit.edu	37	10	87615919	87615919	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr10:87615919A>G	ENST00000327946.7	-	7	1065	c.980T>C	c.(979-981)gTt>gCt	p.V327A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	327						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CAGCATCAGAACACTGTCATA	0.498000										Multiple Myeloma(13;0.14)			18	36					0	0	0.520397	0	0
TPST2	8459	broad.mit.edu	37	22	26932363	26932363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr22:26932363C>T	ENST00000338754.4	-	4	1202	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TPST2_ENST00000403880.1_Missense_Mutation_p.R311Q|TPST2_ENST00000398110.2_Missense_Mutation_p.R311Q	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	311					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GGCCATGTCCCGCACCACATC	0.602000													5	26					0	0	0.184627	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672743	77672743	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr13:77672743T>C	ENST00000407578.2	-	56	8812	c.8546A>G	c.(8545-8547)aAt>aGt	p.N2849S	MYCBP2_ENST00000360084.5_Missense_Mutation_p.N334S|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N2811S|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N2811S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGGTAGATTTTTATCATG	0.483000													22	56					0	0	0.639603	0	0
C19orf35	374872	broad.mit.edu	37	19	2276476	2276476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr19:2276476C>T	ENST00000342063.3	-	4	718	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	209										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCGCCCCGGGCTTGGGC	0.701000													5	11					0	0	0.217242	0	0
RABGGTB	5876	broad.mit.edu	37	1	76255009	76255009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr1:76255009delC	ENST00000319942.3	+	3	348	c.277delC	c.(277-279)ctfs	p.P93fs	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	93					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CGGACATGATCCTCATCTTTT	0.368													21	78	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2835)gagfs	p.E945fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.510			T	IGH@	MM								20	177	---	---	---	---					
SEMA4D	10507	broad.mit.edu	37	9	91978793	91978793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:91978793delT	ENST00000420987.1	-	18	2401	c.1955delA	c.(1954-1956)ctfs	p.H652fs	SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs|SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAGTGCATGGGTCTGCAC	0.607													8	79	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139409935	139409936	+	Splice_Site	INS	-	-	TG			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr9:139409935_139409936insTG	ENST00000277541.6	-	11	1977_1978	c.1903_splice	c.e11+1	p.T635_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	635	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGGCCACCTGTGGTCCCCT	0.698			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			14	41	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	3c2e0c46-e5df-40b0-bf0c-8b41f7f8beb6	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													31	19	---	---	---	---					
RABGGTB	5876	broad.mit.edu	37	1	76255009	76255009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr1:76255009delC	ENST00000319942.3	+	3	348	c.277delC	c.(277-279)ctfs	p.P93fs	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.P93fs	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	93					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CGGACATGATCCTCATCTTTT	0.368													21	78	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)del	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													18	17	---	---	---	---					
SEMA4D	10507	broad.mit.edu	37	9	91978793	91978793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:91978793delT	ENST00000420987.1	-	18	2401	c.1955delA	c.(1954-1956)ctfs	p.H652fs	SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000343780.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000420101.2_Frame_Shift_Del_p.H37fs|SEMA4D_ENST00000339861.4_Frame_Shift_Del_p.H652fs|SEMA4D_ENST00000455551.2_Frame_Shift_Del_p.H652fs	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAGTGCATGGGTCTGCAC	0.607													8	79	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139409935	139409936	+	Splice_Site	INS	-	-	TG			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr9:139409935_139409936insTG	ENST00000277541.6	-	11	1977_1978	c.1903_splice	c.e11+1	p.T635_splice		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	635	EGF-like 16; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGGCCACCTGTGGTCCCCT	0.698			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			14	41	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													31	19	---	---	---	---					
SLC22A11	55867	broad.mit.edu	37	11	64323714	64323715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr11:64323714_64323715insC	ENST00000301891.4	+	1	617_618	c.243_244insC	c.(241-246)ggcccafs	p.GP81fs	SLC22A11_ENST00000377585.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000377581.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	81					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCAACCAGGGGCCCCACCAGTG	0.644											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	143	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-5966-01A-11D-1683-08	TCGA-CV-5966-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24ad5336-f5ee-49c0-a176-48411285fbe8	6ab7e029-9217-48a2-9c7f-dbc4c6963afa	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)del	p.E168del		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.690													2	4	---	---	---	---					
