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
SRPX2	27286	broad.mit.edu	37	X	99925827	99925827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:99925827C>G	ENST00000373004.3	+	11	1669	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	414					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACTCGCTCCTACTTCAAC	0.517000											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	0.004672	0	0
C7orf63	79846	broad.mit.edu	37	7	89915641	89915641	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:89915641C>G	ENST00000389297.4	+	14	1835	c.1584C>G	c.(1582-1584)gcC>gcG	p.A528A	C7orf63_ENST00000316089.8_Silent_p.A528A|C7orf63_ENST00000497910.1_Silent_p.A510A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	528							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAAGAAGCCATTGTTTTGG	0.318000													5	52					0	0	0.000602	0	0
FXYD5	53827	broad.mit.edu	37	19	35660502	35660502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:35660502G>T	ENST00000342879.3	+	8	1299	c.521G>T	c.(520-522)cGg>cTg	p.R174L	FXYD5_ENST00000423817.3_Missense_Mutation_p.R174L|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R103L|FXYD5_ENST00000392219.2_Missense_Mutation_p.R174L|FXYD5_ENST00000541435.2_Missense_Mutation_p.R174L|FXYD5_ENST00000590686.1_Missense_Mutation_p.R174L|FXYD5_ENST00000588699.1_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	174					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTTATGCCGGAATCGTTGC	0.562000													6	33					1.06961e-07	1.64499e-06	0.003080	1	0
SULF2	55959	broad.mit.edu	37	20	46291926	46291926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr20:46291926T>C	ENST00000359930.4	-	17	3109	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SULF2_ENST00000361612.4_Missense_Mutation_p.N753S|SULF2_ENST00000484875.1_Missense_Mutation_p.N753S|SULF2_ENST00000467815.1_Missense_Mutation_p.N753S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	753					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTGTTATTGTTGGCGCTGGT	0.517000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0.004672	0	0
SSH2	85464	broad.mit.edu	37	17	27958010	27958010	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:27958010A>T	ENST00000269033.3	-	15	4272	c.4121T>A	c.(4120-4122)gTg>gAg	p.V1374E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.V1401E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGTAGCACGGGAAGGCC	0.567000													10	70					0	0	0.000443	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582598	64582598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:64582598C>T	ENST00000498707.1	-	27	4429	c.4087G>A	c.(4087-4089)Gca>Aca	p.A1363T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1335T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1363	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTCGTTTGCGGTGTATCCA	0.507000													12	69					0	0	0.001368	0	0
AMER1	139285	broad.mit.edu	37	X	63410343	63410343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:63410343G>A	ENST00000330258.3	-	2	3096	c.2824C>T	c.(2824-2826)Cga>Tga	p.R942*	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGACTGTCTCGGCTCCATTCT	0.587000													7	49					0	0	0.004482	0	0
C2orf16	84226	broad.mit.edu	37	2	27801709	27801709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:27801709G>A	ENST00000408964.2	+	1	2321	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	757										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGGATTCTGGGATACAGGAA	0.418000													11	144					0	0	0.000978	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407533	139407533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:139407533G>A	ENST00000277541.6	-	15	2482	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	803	EGF-like 21; calcium-binding (Potential).			Q -> K (in Ref. 1; AAG33848 and 3; AAA60614).	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)		CACGTGCCCTGGTTCAGACAT	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	36					0	0	0.001368	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402348	197402348	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:197402348C>T	ENST00000273582.5	-	20	3095	c.2550G>A	c.(2548-2550)caG>caA	p.Q850Q	KIAA0226_ENST00000296343.5_Silent_p.Q895Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	895					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATCCTCATTCTGACAGAACT	0.547000													21	188					0	0	0.002299	0	0
APOA5	116519	broad.mit.edu	37	11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:116661095G>A	ENST00000542499.1	-	4	922	c.850C>T	c.(850-852)Cga>Tga	p.R284*	APOA5_ENST00000227665.4_Nonsense_Mutation_p.R284*	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662000													8	61					0	0	0.004482	0	0
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373000													3	115					0	0	0.000602	0	0
GSAP	54103	broad.mit.edu	37	7	76940734	76940734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:76940734C>T	ENST00000257626.7	-	31	2584	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	GSAP_ENST00000441833.2_Missense_Mutation_p.D157N	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		AATTCTGCATCCACATTGTCA	0.428000													5	53					0	0	0.000602	0	0
CASP10	843	broad.mit.edu	37	2	202093772	202093772	+	Missense_Mutation	SNP	G	G	A	rs151011448		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:202093772G>A	ENST00000272879.5	+	10	1716	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	CASP10_ENST00000448480.1_Missense_Mutation_p.R468Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	511					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGACACCTCGACCCCCCATG	0.567000													11	147					0	0	0.001855	0	0
SPATA9	83890	broad.mit.edu	37	5	95018550	95018550	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:95018550G>C	ENST00000274432.8	-	1	150	c.9C>G	c.(7-9)atC>atG	p.I3M	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.I3M|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAACAGGTTTGATTGGCATGG	0.463000													7	60					0	0	0.003080	0	0
PTEN	5728	broad.mit.edu	37	10	89692805	89692805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:89692805C>T	ENST00000371953.3	+	5	1646	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	97	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCCACCACAGCTAGAACT	0.363000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	64					0	0	0.001512	0	0
IDI1	3422	broad.mit.edu	37	10	1087328	1087328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:1087328C>G	ENST00000381344.3	-	5	820	c.654G>C	c.(652-654)ttG>ttC	p.L218F	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	161					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GATCTGGATTCAAAGTTACAT	0.343000													20	50					0	0	0.001216	0	0
ARID1A	8289	broad.mit.edu	37	1	27100152	27100152	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:27100152G>A	ENST00000324856.7	+	16	4319	c.3948G>A	c.(3946-3948)tcG>tcA	p.S1316S	ARID1A_ENST00000457599.2_Silent_p.S1316S|ARID1A_ENST00000374152.2_Silent_p.S933S|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	52					0	0	0.000978	0	0
DLG2	1740	broad.mit.edu	37	11	84028042	84028042	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:84028042C>T	ENST00000280241.8	-	1	146	c.147G>A	c.(145-147)caG>caA	p.Q49Q	DLG2_ENST00000398301.2_Silent_p.Q49Q|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGGCATGGTCTGAGAACTGT	0.622000													12	124					0	0	0.001855	0	0
SORBS2	8470	broad.mit.edu	37	4	186545502	186545502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:186545502C>T	ENST00000431808.1	-	14	1632	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	SORBS2_ENST00000418609.1_Missense_Mutation_p.G261S|SORBS2_ENST00000284776.7_Missense_Mutation_p.G357S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G457S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	357						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G357S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGCCAGCCGTTCTTGAAA	0.517000													5	71					0	0	0.001984	0	0
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:92731813C>T	ENST00000379958.2	-	3	3867	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338000													17	125					0	0	0.004007	0	0
AP4E1	23431	broad.mit.edu	37	15	51223158	51223158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:51223158G>C	ENST00000261842.5	+	7	965	c.859G>C	c.(859-861)Gat>Cat	p.D287H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D212H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	287					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTAGGAAAAGATGATCAAAG	0.388000													3	104					0	0	0.004672	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015554	53015554	+	RNA	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:53015554C>T	ENST00000599143.1	-	0	41																											AGTGACCAGTCAACACTTACC	0.403000													7	57					0	0	0.001984	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580836	11580836	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11580836A>G	ENST00000294484.6	+	10	2431	c.2293A>G	c.(2293-2295)Aac>Gac	p.N765D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.N765D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	765					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTGATACCAACATCCAGGT	0.642000													3	20					0	0	0.000248	0	0
RPRD2	23248	broad.mit.edu	37	1	150416840	150416840	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:150416840C>G	ENST00000401000.4	+	5	668	c.603C>G	c.(601-603)ctC>ctG	p.L201L	RPRD2_ENST00000539519.1_Silent_p.L201L|RPRD2_ENST00000369068.4_Silent_p.L227L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	227							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGAAACTCTCAAATGCTTAA	0.383000													3	60					0	0	0.000248	0	0
TSPEAR	54084	broad.mit.edu	37	21	45948404	45948404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:45948404A>G	ENST00000323084.4	-	6	918	c.853T>C	c.(853-855)Ttc>Ctc	p.F285L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.F217L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	285					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TCAAACCAGAACTGGGCGTCT	0.602000													13	66					0	0	0.001368	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919246	142919246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:142919246C>T	ENST00000595842.1	-	1	114	c.115G>A	c.(115-117)Gga>Aga	p.G39R	TAS2R40_ENST00000408947.3_Silent_p.S25S																							TGGTGGTCTCCGGAATAGAGT	0.517000													11	80					0	0	0.000978	0	0
HERC1	8925	broad.mit.edu	37	15	63978682	63978682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:63978682G>A	ENST00000443617.2	-	34	6188	c.6101C>T	c.(6100-6102)tCc>tTc	p.S2034F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2034	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGGGTCAAAGGATACTTCTTG	0.453000													23	173					0	0	0.002780	0	0
CNTN3	5067	broad.mit.edu	37	3	74350658	74350658	+	Silent	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:74350658T>A	ENST00000263665.6	-	15	2013	c.1986A>T	c.(1984-1986)gtA>gtT	p.V662V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	662	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAACTCAACTACAGTGGCTG	0.433000													8	76					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11757554	11757554	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:11757554C>T	ENST00000262442.3	+	50	9810	c.9742C>T	c.(9742-9744)Ccc>Tcc	p.P3248S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGCAAGACCCCGAGTTCAA	0.488000													13	157					0	0	0.001855	0	0
ADCY1	107	broad.mit.edu	37	7	45717468	45717468	+	Splice_Site	SNP	C	C	T	rs143601874		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:45717468C>T	ENST00000297323.7	+	9	1628	c.1605_splice	c.e9-1	p.R536_splice		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	536					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.R536W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATGGCTCCAGCGGAGGGCATT	0.502000													11	82					0	0	0.001855	0	0
BBS9	27241	broad.mit.edu	37	7	33185888	33185888	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:33185888T>C	ENST00000242067.6	+	2	545	c.24T>C	c.(22-24)gaT>gaC	p.D8D	BBS9_ENST00000396127.2_Silent_p.D8D|BBS9_ENST00000355070.2_Silent_p.D8D|BBS9_ENST00000354265.4_Silent_p.D8D|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000350941.3_Silent_p.D8D|BBS9_ENST00000425508.2_5'UTR	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	8					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAGCCCGTGATTGGTGGTCTA	0.323000									Bardet-Biedl syndrome				7	56					0	0	0.003080	0	0
ZNF767	79970	broad.mit.edu	37	7	149318492	149318492	+	RNA	SNP	C	C	G	rs148578024		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:149318492C>G	ENST00000463567.1	-	0	344					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			CCCACTTGCCCTCCAGCTGGT	0.612000													19	113					0	0	0.001882	0	0
NCAPD3	23310	broad.mit.edu	37	11	134038398	134038398	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:134038398G>A	ENST00000534548.2	-	26	3403	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1113					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGTGATGTTGAATCGCTGTT	0.403000													5	59					0	0	0.000602	0	0
PKHD1	5314	broad.mit.edu	37	6	51920457	51920457	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:51920457G>A	ENST00000371117.3	-	19	2039	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	PKHD1_ENST00000340994.4_Silent_p.L588L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	588					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCTGACGGAGGCTGAACC	0.552000													4	49					0	0	0.000602	0	0
STK10	6793	broad.mit.edu	37	5	171520515	171520515	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:171520515C>T	ENST00000176763.5	-	9	1798	c.1455G>A	c.(1453-1455)tcG>tcA	p.S485S	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCAGTCCGAGTCCCTCT	0.607000													13	134					0	0	0.001368	0	0
DMD	1756	broad.mit.edu	37	X	32380923	32380923	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:32380923G>T	ENST00000357033.4	-	37	5513	c.5307C>A	c.(5305-5307)caC>caA	p.H1769Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1765Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1769	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTAATTCTGTGTGAAATGG	0.473000													14	140					3.32936e-07	5.06214e-06	0.006122	1	0
CEP85L	387119	broad.mit.edu	37	6	118812962	118812962	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:118812962C>G	ENST00000368491.3	-	6	1945	c.1324G>C	c.(1324-1326)Ggg>Cgg	p.G442R	CEP85L_ENST00000419517.2_Missense_Mutation_p.G442R|CEP85L_ENST00000392500.3_Missense_Mutation_p.G445R|CEP85L_ENST00000368488.5_Missense_Mutation_p.G445R|CEP85L_ENST00000360290.3_Missense_Mutation_p.G340R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	442						centrosome											TCAAATTCCCCTTGTTGGGAA	0.373000													4	47					0	0	0.000602	0	0
SETD8	387893	broad.mit.edu	37	12	123875278	123875278	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:123875278T>G	ENST00000402868.3	+	3	660	c.234T>G	c.(232-234)caT>caG	p.H78Q	SETD8_ENST00000330479.4_Missense_Mutation_p.H78Q|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478000													4	48					0	0	0.000248	0	0
C15orf27	123591	broad.mit.edu	37	15	76449066	76449066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:76449066C>G	ENST00000388942.3	+	4	625	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	117						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTCCTGACTCTGGAACTTCT	0.423000													4	43					0	0	0.000248	0	0
MRPL39	54148	broad.mit.edu	37	21	26961175	26961175	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:26961175T>C	ENST00000307301.7	-	9	982	c.941A>G	c.(940-942)gAt>gGt	p.D314G	MRPL39_ENST00000352957.4_Missense_Mutation_p.D314G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	314						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CAATAGCTTATCCCATATTGT	0.303000													14	226					0	0	0.002450	0	0
COL6A6	131873	broad.mit.edu	37	3	130281957	130281957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:130281957G>A	ENST00000358511.6	+	2	141	c.110G>A	c.(109-111)cGc>cAc	p.R37H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCTCTGATCGCCTGGGATCC	0.458000													14	180					0	0	0.004007	0	0
ATP11A	23250	broad.mit.edu	37	13	113479843	113479843	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr13:113479843G>A	ENST00000487903.1	+	11	1060	c.972G>A	c.(970-972)cgG>cgA	p.R324R	ATP11A_ENST00000375630.2_Silent_p.R324R|ATP11A_ENST00000375645.3_Silent_p.R324R|ATP11A_ENST00000283558.8_Silent_p.R324R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	324					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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCTTTCGGGATGAGCCGT	0.488000													11	43					0	0	0.001368	0	0
MFSD11	79157	broad.mit.edu	37	17	74740437	74740437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:74740437C>T	ENST00000588460.1	+	7	2572	c.530C>T	c.(529-531)aCg>aTg	p.T177M	MFSD11_ENST00000586622.1_Missense_Mutation_p.T177M|MFSD11_ENST00000336509.4_Missense_Mutation_p.T177M|MFSD11_ENST00000593181.1_Missense_Mutation_p.T125M|MFSD11_ENST00000355954.3_Missense_Mutation_p.T125M|MFSD11_ENST00000590514.1_Missense_Mutation_p.T177M	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	177						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						ATTGCCCTAACGGTGATTAGC	0.413000													10	80					0	0	0.000978	0	0
LAMA2	3908	broad.mit.edu	37	6	129641784	129641784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:129641784C>T	ENST00000421865.2	+	28	4209	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1387	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCTATTCTGGCCTGTCC	0.443000													4	31					0	0	0.000248	0	0
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428000													10	114					0	0	0.000673	0	0
CSPP1	79848	broad.mit.edu	37	8	68007559	68007559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:68007559G>A	ENST00000262210.5	+	6	573	c.542G>A	c.(541-543)gGt>gAt	p.G181D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	216						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAACCTATTGGTCAAGTTAAG	0.328000													14	71					0	0	0.003163	0	0
SCN9A	6335	broad.mit.edu	37	2	167142859	167142859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:167142859G>A	ENST00000375387.4	-	11	1932	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S530F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S531F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S530F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	530						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGGGGGTAGACAACCTCTT	0.448000													23	277					0	0	0.001271	0	0
KMT2A	4297	broad.mit.edu	37	11	118375875	118375875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:118375875C>T	ENST00000534358.1	+	27	9291	c.9268C>T	c.(9268-9270)Cca>Tca	p.P3090S	KMT2A_ENST00000389506.5_Missense_Mutation_p.P3087S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3049S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAACATGCAGCCACTTTATGT	0.468000													17	137					0	0	0.004007	0	0
CSF3R	1441	broad.mit.edu	37	1	36937036	36937036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:36937036C>T	ENST00000373103.1	-	10	1830	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	CSF3R_ENST00000373104.1_Missense_Mutation_p.R428K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373106.1_Missense_Mutation_p.R428K|CSF3R_ENST00000361632.4_Missense_Mutation_p.R428K|CSF3R_ENST00000338937.5_Missense_Mutation_p.R428K|CSF3R_ENST00000331941.5_Missense_Mutation_p.R428K|CSF3R_ENST00000440588.2_Missense_Mutation_p.R428K|CSF3R_ENST00000418048.2_Missense_Mutation_p.R428K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	428					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTTTACCTCTGCTTTCTGA	0.577000													15	146					0	0	0.004007	0	0
FOXG1	2290	broad.mit.edu	37	14	29237514	29237514	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:29237514C>T	ENST00000382535.3	+	2	1398	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	FOXG1_ENST00000313071.4_Silent_p.S343S			P55316	FOXG1_HUMAN	forkhead box G1	343					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTACAGCTCCGTGTTGACTC	0.652000													18	125					0	0	0.001216	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351864	43351864	+	RNA	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:43351864G>A	ENST00000344686.2	-	0	1492							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGACCCAAGGCCCTTCTCTC	0.547000													5	29					0	0	0.000602	0	0
C5orf30	90355	broad.mit.edu	37	5	102612013	102612013	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:102612013A>G	ENST00000319933.2	+	3	701	c.393A>G	c.(391-393)ccA>ccG	p.P131P	C5orf30_ENST00000510890.1_Silent_p.P131P|C5orf30_ENST00000515669.1_Silent_p.P131P	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	131										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GGCGGATGCCAAGCTCAGGAG	0.498000													3	46					0	0	0.004672	0	0
VWA3A	146177	broad.mit.edu	37	16	22161162	22161162	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:22161162G>A	ENST00000389397.4	+	30	3207	c.345G>A	c.(343-345)gtG>gtA	p.V115V	VWA3A_ENST00000563755.1_Silent_p.V115V|VWA3A_ENST00000389398.5_Silent_p.V1013V			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACACGCTGGTGGAGACCACAG	0.557000													5	14					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			4	34					0	0	0.000248	0	0
C10orf71	118461	broad.mit.edu	37	10	50531131	50531131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:50531131G>C	ENST00000374144.3	+	3	829	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.E181Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	181										endometrium(1)	1						TCCTCTTCCAGAAAACAGTGT	0.532000													11	28					0	0	0.000673	0	0
COPB2	9276	broad.mit.edu	37	3	139078167	139078167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:139078167G>A	ENST00000333188.5	-	18	2429	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	COPB2_ENST00000507777.1_Missense_Mutation_p.R721W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	750					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCTGGCAGCCGTCCAGTTCTA	0.393000													15	113					0	0	0.004990	0	0
TMEM70	54968	broad.mit.edu	37	8	74893475	74893475	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:74893475A>C	ENST00000312184.5	+	3	475	c.402A>C	c.(400-402)gaA>gaC	p.E134D	TMEM70_ENST00000517439.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	134					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTATTTCTGAAAGTGTGCCTC	0.373000													26	83					0	0	0.003954	0	0
TNXB	7148	broad.mit.edu	37	6	32032668	32032668	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:32032668C>T	ENST00000375244.3	-	19	6972	c.6771G>A	c.(6769-6771)aaG>aaA	p.K2257K	TNXB_ENST00000375247.2_Silent_p.K2257K			P22105	TENX_HUMAN	tenascin XB	2329					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCATCTTGTACTTGTGGTCTG	0.627000													4	38					0	0	0.001168	0	0
MRPS18C	51023	broad.mit.edu	37	4	84382282	84382282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:84382282C>T	ENST00000295491.4	+	6	474	c.361C>T	c.(361-363)Cca>Tca	p.P121S	MRPS18C_ENST00000507019.1_Missense_Mutation_p.P93S|MRPS18C_ENST00000507349.1_3'UTR|FAM175A_ENST00000321945.7_3'UTR	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	121					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				AGGGTTTATGCCAGTTACATA	0.333000													5	124					0	0	0.000602	0	0
CADPS	8618	broad.mit.edu	37	3	62578331	62578331	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:62578331T>C	ENST00000383710.4	-	7	1767	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	CADPS_ENST00000283269.9_Missense_Mutation_p.E473G|CADPS_ENST00000357948.3_Missense_Mutation_p.E473G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	473	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCCTTGTCCTCCAACGCCAG	0.582000													3	86					0	0	0.000248	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152401	133152401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:133152401G>A	ENST00000388996.4	-	11	1910	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A377V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A497V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	497					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTCTTCCGCCATGGGGTC	0.612000													13	31					0	0	0.002450	0	0
EHMT1	79813	broad.mit.edu	37	9	140611325	140611325	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:140611325C>T	ENST00000460843.1	+	3	360	c.333C>T	c.(331-333)gcC>gcT	p.A111A	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.A80A|EHMT1_ENST00000462484.1_Silent_p.A111A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	111					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGTCACTGCCGACGACTTTG	0.542000													7	99					0	0	0.003080	0	0
LILRB2	10288	broad.mit.edu	37	19	54783667	54783667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:54783667G>A	ENST00000391748.1	-	4	461	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	LILRB2_ENST00000314446.5_Missense_Mutation_p.P112S|LILRB2_ENST00000391749.4_Missense_Mutation_p.P112S|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.P112S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	112	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCAGGGGGTCACTGAGC	0.607000													5	76					0	0	0.000602	0	0
RLIM	51132	broad.mit.edu	37	X	73812879	73812879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:73812879C>T	ENST00000332687.6	-	4	489	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RLIM_ENST00000349225.2_Missense_Mutation_p.D91N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	91					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGACACATCATCTGAAGAG	0.418000													7	70					0	0	0.003080	0	0
TRH	7200	broad.mit.edu	37	3	129695951	129695951	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:129695951C>T	ENST00000302649.3	+	3	1148	c.621C>T	c.(619-621)ggC>ggT	p.G207G	TRH_ENST00000507066.1_Silent_p.G203G	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	207					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GTCAAGCGGGCCTTCTGCTGG	0.657000													6	37					0	0	0.001168	0	0
AVPR1A	552	broad.mit.edu	37	12	63541189	63541189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:63541189C>T	ENST00000299178.2	-	2	1312	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	403					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383000													7	104					0	0	0.001984	0	0
MASP2	10747	broad.mit.edu	37	1	11087433	11087433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11087433T>C	ENST00000400897.3	-	11	1585	c.1570A>G	c.(1570-1572)Act>Gct	p.T524A		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	524	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCATCATGAGTATAACCTTCA	0.398000													15	154					0	0	0.003163	0	0
FYB	2533	broad.mit.edu	37	5	39134377	39134377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:39134377G>T	ENST00000351578.6	-	9	1940	c.1750C>A	c.(1750-1752)Cct>Act	p.P584T	FYB_ENST00000505428.1_Missense_Mutation_p.P584T|FYB_ENST00000540520.1_Missense_Mutation_p.P594T|FYB_ENST00000512982.1_Missense_Mutation_p.P584T|FYB_ENST00000515010.1_Missense_Mutation_p.P584T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	584					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTTGAAGGGGCACCAAGA	0.358000													20	142					2.27731e-05	0.000342363	0.001882	1	0
SPATA20	64847	broad.mit.edu	37	17	48631733	48631733	+	Silent	SNP	C	C	T	rs147637130	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:48631733C>T	ENST00000006658.6	+	15	2199	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Silent_p.S677S|SPATA20_ENST00000393244.3_Silent_p.S633S	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	677					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCCTTTTCCGAGCGCATGC	0.647000													11	99					0	0	0.001368	0	0
GFM1	85476	broad.mit.edu	37	3	158402350	158402350	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:158402350G>C	ENST00000486715.1	+	15	2159	c.1802G>C	c.(1801-1803)gGt>gCt	p.G601A	GFM1_ENST00000264263.5_Missense_Mutation_p.G620A	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	601					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTCTTTCTGGTCACAAGCTC	0.458000													11	80					0	0	0.001855	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701285	195701285	+	RNA	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:195701285G>T	ENST00000427841.1	-	0	1539					NR_003264.2																						GCACGACTCTGCGATGCTCAG	0.537000													4	43					0.000602214	0.00875829	0.000602	1	0
BRINP1	1620	broad.mit.edu	37	9	121929389	121929389	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:121929389C>T	ENST00000265922.3	-	8	2720	c.2259G>A	c.(2257-2259)tcG>tcA	p.S753S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		753					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCATCTGGTCCGACTGTTTGA	0.488000													27	155					0	0	0.005443	0	0
BECN1	8678	broad.mit.edu	37	17	40968043	40968043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:40968043C>T	ENST00000361523.4	-	8	845	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	BECN1_ENST00000590099.1_Missense_Mutation_p.R238Q|BECN1_ENST00000438274.3_Missense_Mutation_p.R162Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	238					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGCTGCTGTCGTTTAAATTC	0.473000													7	90					0	0	0.003080	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259969	90259969	+	RNA	SNP	C	C	A	rs112036184		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:90259969C>A	ENST00000471857.1	+	0	253																											GATGTGTCATCTGGATGACCC	0.443000													13	150					0.000151284	0.0022491	0.001855	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14799113	14799113	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr18:14799113T>A	ENST00000358984.4	+	21	2223	c.2043T>A	c.(2041-2043)aaT>aaA	p.N681K	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	732										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTCCTGATAATGATGGTCTTC	0.284000													4	35					0	0	0.000248	0	0
KIF4A	24137	broad.mit.edu	37	X	69510347	69510347	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:69510347G>A	ENST00000374403.3	+	2	121	c.39G>A	c.(37-39)gcG>gcA	p.A13A	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.A13A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	13	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAGAGTGGCGCTGCGTTGTC	0.557000													9	50					0	0	0.004482	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596202	24596202	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:24596202C>G	ENST00000535378.1	-	4	1315	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.V189L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.V234L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V234L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	234					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGAAGCAACACACTTCTCTCA	0.542000													3	69					0	0	0.004672	0	0
KEAP1	9817	broad.mit.edu	37	19	10610205	10610205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:10610205G>A	ENST00000171111.5	-	2	1052	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R169C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R169C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGCAGGCACGGACAACGCTG	0.582000													6	64					0	0	0.003080	0	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388000													4	65					0	0	0.000248	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135754234	135754234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:135754234C>A	ENST00000250617.6	-	20	3285	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E567*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	694					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTTTCTCTTCCTCAGGG	0.473000													13	159					0.000219431	0.00322637	0.002450	1	0
ZNHIT6	54680	broad.mit.edu	37	1	86173364	86173364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:86173364C>T	ENST00000431532.2	-	2	635	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.E202K	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	202	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATCGGAGGCTCTTCTTTCACC	0.463000													8	153					0	0	0.003080	0	0
SRPX2	27286	broad.mit.edu	37	X	99925827	99925827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:99925827C>G	ENST00000373004.3	+	11	1669	c.1241C>G	c.(1240-1242)tCc>tGc	p.S414C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	414					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACTCGCTCCTACTTCAAC	0.517000											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	0.004672	0	0
C7orf63	79846	broad.mit.edu	37	7	89915641	89915641	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:89915641C>G	ENST00000389297.4	+	14	1835	c.1584C>G	c.(1582-1584)gcC>gcG	p.A528A	C7orf63_ENST00000316089.8_Silent_p.A528A|C7orf63_ENST00000497910.1_Silent_p.A510A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	528							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAAGAAGCCATTGTTTTGG	0.318000													5	52					0	0	0.000602	0	0
FXYD5	53827	broad.mit.edu	37	19	35660502	35660502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:35660502G>T	ENST00000342879.3	+	8	1299	c.521G>T	c.(520-522)cGg>cTg	p.R174L	FXYD5_ENST00000590686.1_Missense_Mutation_p.R174L|FXYD5_ENST00000588699.1_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R103L|FXYD5_ENST00000541435.2_Missense_Mutation_p.R174L|FXYD5_ENST00000423817.3_Missense_Mutation_p.R174L|FXYD5_ENST00000392219.2_Missense_Mutation_p.R174L|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	174					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTTATGCCGGAATCGTTGC	0.562000													6	33					1.06961e-07	1.61426e-06	0.003080	1	0
SULF2	55959	broad.mit.edu	37	20	46291926	46291926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr20:46291926T>C	ENST00000359930.4	-	17	3109	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	SULF2_ENST00000361612.4_Missense_Mutation_p.N753S|SULF2_ENST00000467815.1_Missense_Mutation_p.N753S|SULF2_ENST00000484875.1_Missense_Mutation_p.N753S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	753					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTGTTATTGTTGGCGCTGGT	0.517000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0.004672	0	0
SSH2	85464	broad.mit.edu	37	17	27958010	27958010	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:27958010A>T	ENST00000269033.3	-	15	4272	c.4121T>A	c.(4120-4122)gTg>gAg	p.V1374E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.V1401E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGTAGCACGGGAAGGCC	0.567000													10	70					0	0	0.000443	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582598	64582598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:64582598C>T	ENST00000498707.1	-	27	4429	c.4087G>A	c.(4087-4089)Gca>Aca	p.A1363T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1335T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1363	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTCGTTTGCGGTGTATCCA	0.507000													12	69					0	0	0.001368	0	0
AMER1	139285	broad.mit.edu	37	X	63410343	63410343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:63410343G>A	ENST00000330258.3	-	2	3096	c.2824C>T	c.(2824-2826)Cga>Tga	p.R942*	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGACTGTCTCGGCTCCATTCT	0.587000													7	49					0	0	0.004482	0	0
C2orf16	84226	broad.mit.edu	37	2	27801709	27801709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr2:27801709G>A	ENST00000408964.2	+	1	2321	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	757										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGGATTCTGGGATACAGGAA	0.418000													11	144					0	0	0.000978	0	0
BBS9	27241	broad.mit.edu	37	7	33185888	33185888	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:33185888T>C	ENST00000242067.6	+	2	545	c.24T>C	c.(22-24)gaT>gaC	p.D8D	BBS9_ENST00000396127.2_Silent_p.D8D|BBS9_ENST00000350941.3_Silent_p.D8D|BBS9_ENST00000355070.2_Silent_p.D8D|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000354265.4_Silent_p.D8D	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	8					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAGCCCGTGATTGGTGGTCTA	0.323000									Bardet-Biedl syndrome				7	56					0	0	0.003080	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407533	139407533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr9:139407533G>A	ENST00000277541.6	-	15	2482	c.2407C>T	c.(2407-2409)Cag>Tag	p.Q803*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	803	EGF-like 21; calcium-binding (Potential).			Q -> K (in Ref. 1; AAG33848 and 3; AAA60614).	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)		CACGTGCCCTGGTTCAGACAT	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	36					0	0	0.001368	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402348	197402348	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:197402348C>T	ENST00000273582.5	-	20	3095	c.2550G>A	c.(2548-2550)caG>caA	p.Q850Q	KIAA0226_ENST00000296343.5_Silent_p.Q895Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	895					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATCCTCATTCTGACAGAACT	0.547000													21	188					0	0	0.002299	0	0
APOA5	116519	broad.mit.edu	37	11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr11:116661095G>A	ENST00000542499.1	-	4	922	c.850C>T	c.(850-852)Cga>Tga	p.R284*	APOA5_ENST00000227665.4_Nonsense_Mutation_p.R284*	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	284					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662000													8	61					0	0	0.004482	0	0
GSAP	54103	broad.mit.edu	37	7	76940734	76940734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:76940734C>T	ENST00000257626.7	-	31	2584	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N	GSAP_ENST00000441833.2_Missense_Mutation_p.D157N	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		AATTCTGCATCCACATTGTCA	0.428000													5	53					0	0	0.000602	0	0
CASP10	843	broad.mit.edu	37	2	202093772	202093772	+	Missense_Mutation	SNP	G	G	A	rs151011448		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr2:202093772G>A	ENST00000272879.5	+	10	1716	c.1532G>A	c.(1531-1533)cGa>cAa	p.R511Q	CASP10_ENST00000448480.1_Missense_Mutation_p.R468Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	511					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGACACCTCGACCCCCCATG	0.567000													11	147					0	0	0.001855	0	0
SPATA9	83890	broad.mit.edu	37	5	95018550	95018550	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr5:95018550G>C	ENST00000274432.8	-	1	150	c.9C>G	c.(7-9)atC>atG	p.I3M	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.I3M	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAACAGGTTTGATTGGCATGG	0.463000													7	60					0	0	0.003080	0	0
PTEN	5728	broad.mit.edu	37	10	89692805	89692805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr10:89692805C>T	ENST00000371953.3	+	5	1646	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	97	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCCACCACAGCTAGAACT	0.363000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	64					0	0	0.001512	0	0
IDI1	3422	broad.mit.edu	37	10	1087328	1087328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr10:1087328C>G	ENST00000381344.3	-	5	820	c.654G>C	c.(652-654)ttG>ttC	p.L218F	IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	161					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GATCTGGATTCAAAGTTACAT	0.343000													20	50					0	0	0.001216	0	0
MRPL39	54148	broad.mit.edu	37	21	26961175	26961175	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr21:26961175T>C	ENST00000307301.7	-	9	982	c.941A>G	c.(940-942)gAt>gGt	p.D314G	MRPL39_ENST00000352957.4_Missense_Mutation_p.D314G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	314						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CAATAGCTTATCCCATATTGT	0.303000													14	226					0	0	0.002450	0	0
ARID1A	8289	broad.mit.edu	37	1	27100152	27100152	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:27100152G>A	ENST00000324856.7	+	16	4319	c.3948G>A	c.(3946-3948)tcG>tcA	p.S1316S	ARID1A_ENST00000374152.2_Silent_p.S933S|ARID1A_ENST00000457599.2_Silent_p.S1316S|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.M1318fs*163(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCAGACTCGGGGATGTATT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	52					0	0	0.000978	0	0
SORBS2	8470	broad.mit.edu	37	4	186545502	186545502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr4:186545502C>T	ENST00000431808.1	-	14	1632	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.G457S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.G357S|SORBS2_ENST00000418609.1_Missense_Mutation_p.G261S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	357						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G357S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGCCAGCCGTTCTTGAAA	0.517000													5	71					0	0	0.001984	0	0
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:92731813C>T	ENST00000379958.2	-	3	3867	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338000													17	125					0	0	0.004007	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580836	11580836	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:11580836A>G	ENST00000294484.6	+	10	2431	c.2293A>G	c.(2293-2295)Aac>Gac	p.N765D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.N765D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	765					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTGATACCAACATCCAGGT	0.642000													3	20					0	0	0.000248	0	0
DLG2	1740	broad.mit.edu	37	11	84028042	84028042	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr11:84028042C>T	ENST00000280241.8	-	1	146	c.147G>A	c.(145-147)caG>caA	p.Q49Q	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Silent_p.Q49Q|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGGCATGGTCTGAGAACTGT	0.622000													12	124					0	0	0.001855	0	0
RPRD2	23248	broad.mit.edu	37	1	150416840	150416840	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:150416840C>G	ENST00000401000.4	+	5	668	c.603C>G	c.(601-603)ctC>ctG	p.L201L	RPRD2_ENST00000369068.4_Silent_p.L227L|RPRD2_ENST00000539519.1_Silent_p.L201L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	227							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGAAACTCTCAAATGCTTAA	0.383000													3	60					0	0	0.000248	0	0
TSPEAR	54084	broad.mit.edu	37	21	45948404	45948404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr21:45948404A>G	ENST00000323084.4	-	6	918	c.853T>C	c.(853-855)Ttc>Ctc	p.F285L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.F217L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	285					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TCAAACCAGAACTGGGCGTCT	0.602000													13	66					0	0	0.001368	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919246	142919246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:142919246C>T	ENST00000595842.1	-	1	114	c.115G>A	c.(115-117)Gga>Aga	p.G39R	TAS2R40_ENST00000408947.3_Silent_p.S25S																							TGGTGGTCTCCGGAATAGAGT	0.517000													11	80					0	0	0.000978	0	0
HERC1	8925	broad.mit.edu	37	15	63978682	63978682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr15:63978682G>A	ENST00000443617.2	-	34	6188	c.6101C>T	c.(6100-6102)tCc>tTc	p.S2034F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2034	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGGGTCAAAGGATACTTCTTG	0.453000													23	173					0	0	0.002780	0	0
CNTN3	5067	broad.mit.edu	37	3	74350658	74350658	+	Silent	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:74350658T>A	ENST00000263665.6	-	15	2013	c.1986A>T	c.(1984-1986)gtA>gtT	p.V662V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	662	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAACTCAACTACAGTGGCTG	0.433000													8	76					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11757554	11757554	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:11757554C>T	ENST00000262442.3	+	50	9810	c.9742C>T	c.(9742-9744)Ccc>Tcc	p.P3248S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGCAAGACCCCGAGTTCAA	0.488000													13	157					0	0	0.001855	0	0
ADCY1	107	broad.mit.edu	37	7	45717468	45717468	+	Splice_Site	SNP	C	C	T	rs143601874		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:45717468C>T	ENST00000297323.7	+	9	1628	c.1605_splice	c.e9-1	p.R536_splice		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	536					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.R536W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATGGCTCCAGCGGAGGGCATT	0.502000													11	82					0	0	0.001855	0	0
ZNF767	79970	broad.mit.edu	37	7	149318492	149318492	+	RNA	SNP	C	C	G	rs148578024		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:149318492C>G	ENST00000463567.1	-	0	344					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			CCCACTTGCCCTCCAGCTGGT	0.612000													19	113					0	0	0.001882	0	0
NCAPD3	23310	broad.mit.edu	37	11	134038398	134038398	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr11:134038398G>A	ENST00000534548.2	-	26	3403	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1113					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGTGATGTTGAATCGCTGTT	0.403000													5	59					0	0	0.000602	0	0
PKHD1	5314	broad.mit.edu	37	6	51920457	51920457	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr6:51920457G>A	ENST00000371117.3	-	19	2039	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	PKHD1_ENST00000340994.4_Silent_p.L588L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	588					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCTGACGGAGGCTGAACC	0.552000													4	49					0	0	0.000602	0	0
STK10	6793	broad.mit.edu	37	5	171520515	171520515	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr5:171520515C>T	ENST00000176763.5	-	9	1798	c.1455G>A	c.(1453-1455)tcG>tcA	p.S485S	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCAGTCCGAGTCCCTCT	0.607000													13	134					0	0	0.001368	0	0
AP4E1	23431	broad.mit.edu	37	15	51223158	51223158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr15:51223158G>C	ENST00000261842.5	+	7	965	c.859G>C	c.(859-861)Gat>Cat	p.D287H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D212H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	287					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTAGGAAAAGATGATCAAAG	0.388000													3	104					0	0	0.004672	0	0
DMD	1756	broad.mit.edu	37	X	32380923	32380923	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:32380923G>T	ENST00000357033.4	-	37	5513	c.5307C>A	c.(5305-5307)caC>caA	p.H1769Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1765Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1769	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTAATTCTGTGTGAAATGG	0.473000													14	140					3.32936e-07	4.96756e-06	0.006122	1	0
CEP85L	387119	broad.mit.edu	37	6	118812962	118812962	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr6:118812962C>G	ENST00000368491.3	-	6	1945	c.1324G>C	c.(1324-1326)Ggg>Cgg	p.G442R	CEP85L_ENST00000419517.2_Missense_Mutation_p.G442R|CEP85L_ENST00000368488.5_Missense_Mutation_p.G445R|CEP85L_ENST00000392500.3_Missense_Mutation_p.G445R|CEP85L_ENST00000360290.3_Missense_Mutation_p.G340R	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	442						centrosome											TCAAATTCCCCTTGTTGGGAA	0.373000													4	47					0	0	0.000602	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													4	92					0	0	0.000248	0	0
SETD8	387893	broad.mit.edu	37	12	123875278	123875278	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr12:123875278T>G	ENST00000402868.3	+	3	660	c.234T>G	c.(232-234)caT>caG	p.H78Q	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.H78Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478000													4	48					0	0	0.000248	0	0
C15orf27	123591	broad.mit.edu	37	15	76449066	76449066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr15:76449066C>G	ENST00000388942.3	+	4	625	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	117						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTCCTGACTCTGGAACTTCT	0.423000													4	43					0	0	0.000248	0	0
COL6A6	131873	broad.mit.edu	37	3	130281957	130281957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:130281957G>A	ENST00000358511.6	+	2	141	c.110G>A	c.(109-111)cGc>cAc	p.R37H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCTCTGATCGCCTGGGATCC	0.458000													14	180					0	0	0.004007	0	0
ATP11A	23250	broad.mit.edu	37	13	113479843	113479843	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr13:113479843G>A	ENST00000487903.1	+	11	1060	c.972G>A	c.(970-972)cgG>cgA	p.R324R	ATP11A_ENST00000375645.3_Silent_p.R324R|ATP11A_ENST00000375630.2_Silent_p.R324R|ATP11A_ENST00000283558.8_Silent_p.R324R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	324					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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCTTTCGGGATGAGCCGT	0.488000													11	43					0	0	0.001368	0	0
MFSD11	79157	broad.mit.edu	37	17	74740437	74740437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:74740437C>T	ENST00000588460.1	+	7	2572	c.530C>T	c.(529-531)aCg>aTg	p.T177M	MFSD11_ENST00000590514.1_Missense_Mutation_p.T177M|MFSD11_ENST00000586622.1_Missense_Mutation_p.T177M|MFSD11_ENST00000355954.3_Missense_Mutation_p.T125M|MFSD11_ENST00000593181.1_Missense_Mutation_p.T125M|MFSD11_ENST00000336509.4_Missense_Mutation_p.T177M	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	177						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						ATTGCCCTAACGGTGATTAGC	0.413000													10	80					0	0	0.000978	0	0
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373000													3	115					0	0	0.000602	0	0
LAMA2	3908	broad.mit.edu	37	6	129641784	129641784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr6:129641784C>T	ENST00000421865.2	+	28	4209	c.4160C>T	c.(4159-4161)tCt>tTt	p.S1387F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1387	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCTATTCTGGCCTGTCC	0.443000													4	31					0	0	0.000248	0	0
CSPP1	79848	broad.mit.edu	37	8	68007559	68007559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr8:68007559G>A	ENST00000262210.5	+	6	573	c.542G>A	c.(541-543)gGt>gAt	p.G181D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	216						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAACCTATTGGTCAAGTTAAG	0.328000													14	71					0	0	0.003163	0	0
SCN9A	6335	broad.mit.edu	37	2	167142859	167142859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr2:167142859G>A	ENST00000375387.4	-	11	1932	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SCN9A_ENST00000409672.1_Missense_Mutation_p.S530F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.S530F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S531F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	530						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGGGGGTAGACAACCTCTT	0.448000													23	277					0	0	0.001271	0	0
CSF3R	1441	broad.mit.edu	37	1	36937036	36937036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:36937036C>T	ENST00000373103.1	-	10	1830	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	CSF3R_ENST00000373104.1_Missense_Mutation_p.R428K|CSF3R_ENST00000361632.4_Missense_Mutation_p.R428K|CSF3R_ENST00000373106.1_Missense_Mutation_p.R428K|CSF3R_ENST00000440588.2_Missense_Mutation_p.R428K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.R428K|CSF3R_ENST00000338937.5_Missense_Mutation_p.R428K|CSF3R_ENST00000331941.5_Missense_Mutation_p.R428K	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	428					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTTTACCTCTGCTTTCTGA	0.577000													15	146					0	0	0.004007	0	0
FOXG1	2290	broad.mit.edu	37	14	29237514	29237514	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr14:29237514C>T	ENST00000382535.3	+	2	1398	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	FOXG1_ENST00000313071.4_Silent_p.S343S			P55316	FOXG1_HUMAN	forkhead box G1	343					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTACAGCTCCGTGTTGACTC	0.652000													18	125					0	0	0.001216	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351864	43351864	+	RNA	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:43351864G>A	ENST00000344686.2	-	0	1492							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGACCCAAGGCCCTTCTCTC	0.547000													5	29					0	0	0.000602	0	0
C5orf30	90355	broad.mit.edu	37	5	102612013	102612013	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr5:102612013A>G	ENST00000319933.2	+	3	701	c.393A>G	c.(391-393)ccA>ccG	p.P131P	C5orf30_ENST00000515669.1_Silent_p.P131P|C5orf30_ENST00000510890.1_Silent_p.P131P	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	131										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GGCGGATGCCAAGCTCAGGAG	0.498000													3	46					0	0	0.004672	0	0
VWA3A	146177	broad.mit.edu	37	16	22161162	22161162	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr16:22161162G>A	ENST00000389397.4	+	30	3207	c.345G>A	c.(343-345)gtG>gtA	p.V115V	VWA3A_ENST00000563755.1_Silent_p.V115V|VWA3A_ENST00000389398.5_Silent_p.V1013V			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACACGCTGGTGGAGACCACAG	0.557000													5	14					0	0	0.000602	0	0
TMEM70	54968	broad.mit.edu	37	8	74893475	74893475	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr8:74893475A>C	ENST00000312184.5	+	3	475	c.402A>C	c.(400-402)gaA>gaC	p.E134D	TMEM70_ENST00000517439.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	134					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTATTTCTGAAAGTGTGCCTC	0.373000													26	83					0	0	0.003954	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			4	34					0	0	0.000248	0	0
C10orf71	118461	broad.mit.edu	37	10	50531131	50531131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr10:50531131G>C	ENST00000374144.3	+	3	829	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.E181Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	181										endometrium(1)	1						TCCTCTTCCAGAAAACAGTGT	0.532000													11	28					0	0	0.000673	0	0
COPB2	9276	broad.mit.edu	37	3	139078167	139078167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:139078167G>A	ENST00000333188.5	-	18	2429	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	COPB2_ENST00000507777.1_Missense_Mutation_p.R721W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	750					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCTGGCAGCCGTCCAGTTCTA	0.393000													15	113					0	0	0.004990	0	0
BRINP1	1620	broad.mit.edu	37	9	121929389	121929389	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr9:121929389C>T	ENST00000265922.3	-	8	2720	c.2259G>A	c.(2257-2259)tcG>tcA	p.S753S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		753					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCATCTGGTCCGACTGTTTGA	0.488000													27	155					0	0	0.005443	0	0
TNXB	7148	broad.mit.edu	37	6	32032668	32032668	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr6:32032668C>T	ENST00000375244.3	-	19	6972	c.6771G>A	c.(6769-6771)aaG>aaA	p.K2257K	TNXB_ENST00000375247.2_Silent_p.K2257K			P22105	TENX_HUMAN	tenascin XB	2329					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCATCTTGTACTTGTGGTCTG	0.627000													4	38					0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62578331	62578331	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:62578331T>C	ENST00000383710.4	-	7	1767	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	CADPS_ENST00000283269.9_Missense_Mutation_p.E473G|CADPS_ENST00000357948.3_Missense_Mutation_p.E473G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	473	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCCTTGTCCTCCAACGCCAG	0.582000													3	86					0	0	0.000248	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152401	133152401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr8:133152401G>A	ENST00000388996.4	-	11	1910	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A377V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A497V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	497					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTCTTCCGCCATGGGGTC	0.612000													13	31					0	0	0.002450	0	0
EHMT1	79813	broad.mit.edu	37	9	140611325	140611325	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr9:140611325C>T	ENST00000460843.1	+	3	360	c.333C>T	c.(331-333)gcC>gcT	p.A111A	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.A80A|EHMT1_ENST00000462484.1_Silent_p.A111A	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	111					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGTCACTGCCGACGACTTTG	0.542000													7	99					0	0	0.003080	0	0
LILRB2	10288	broad.mit.edu	37	19	54783667	54783667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:54783667G>A	ENST00000391748.1	-	4	461	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	LILRB2_ENST00000314446.5_Missense_Mutation_p.P112S|LILRB2_ENST00000391749.4_Missense_Mutation_p.P112S|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.P112S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	112	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCAGGGGGTCACTGAGC	0.607000													5	76					0	0	0.000602	0	0
RLIM	51132	broad.mit.edu	37	X	73812879	73812879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:73812879C>T	ENST00000332687.6	-	4	489	c.271G>A	c.(271-273)Gat>Aat	p.D91N	RLIM_ENST00000349225.2_Missense_Mutation_p.D91N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	91					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTAGACACATCATCTGAAGAG	0.418000													7	70					0	0	0.003080	0	0
TRH	7200	broad.mit.edu	37	3	129695951	129695951	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:129695951C>T	ENST00000302649.3	+	3	1148	c.621C>T	c.(619-621)ggC>ggT	p.G207G	TRH_ENST00000507066.1_Silent_p.G203G	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	207					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GTCAAGCGGGCCTTCTGCTGG	0.657000													6	37					0	0	0.001168	0	0
AVPR1A	552	broad.mit.edu	37	12	63541189	63541189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr12:63541189C>T	ENST00000299178.2	-	2	1312	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	403					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383000													7	104					0	0	0.001984	0	0
MASP2	10747	broad.mit.edu	37	1	11087433	11087433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:11087433T>C	ENST00000400897.3	-	11	1585	c.1570A>G	c.(1570-1572)Act>Gct	p.T524A		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	524	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCATCATGAGTATAACCTTCA	0.398000													15	154					0	0	0.003163	0	0
CTD-3099C6.5	0	broad.mit.edu	37	19	53015554	53015554	+	RNA	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:53015554C>T	ENST00000599143.1	-	0	41																											AGTGACCAGTCAACACTTACC	0.403000													7	57					0	0	0.001984	0	0
FYB	2533	broad.mit.edu	37	5	39134377	39134377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr5:39134377G>T	ENST00000351578.6	-	9	1940	c.1750C>A	c.(1750-1752)Cct>Act	p.P584T	FYB_ENST00000512982.1_Missense_Mutation_p.P584T|FYB_ENST00000505428.1_Missense_Mutation_p.P584T|FYB_ENST00000515010.1_Missense_Mutation_p.P584T|FYB_ENST00000540520.1_Missense_Mutation_p.P594T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	584					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTTGAAGGGGCACCAAGA	0.358000													20	142					2.27731e-05	0.000335967	0.001882	1	0
SPATA20	64847	broad.mit.edu	37	17	48631733	48631733	+	Silent	SNP	C	C	T	rs147637130	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:48631733C>T	ENST00000006658.6	+	15	2199	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.S633S|SPATA20_ENST00000356488.4_Silent_p.S677S	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	677					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCCTTTTCCGAGCGCATGC	0.647000													11	99					0	0	0.001368	0	0
GFM1	85476	broad.mit.edu	37	3	158402350	158402350	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr3:158402350G>C	ENST00000486715.1	+	15	2159	c.1802G>C	c.(1801-1803)gGt>gCt	p.G601A	GFM1_ENST00000264263.5_Missense_Mutation_p.G620A	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	601					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTCTTTCTGGTCACAAGCTC	0.458000													11	80					0	0	0.001855	0	0
BECN1	8678	broad.mit.edu	37	17	40968043	40968043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:40968043C>T	ENST00000361523.4	-	8	845	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	BECN1_ENST00000590099.1_Missense_Mutation_p.R238Q|BECN1_ENST00000438274.3_Missense_Mutation_p.R162Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	238					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGCTGCTGTCGTTTAAATTC	0.473000													7	90					0	0	0.003080	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90259969	90259969	+	RNA	SNP	C	C	A	rs112036184		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr2:90259969C>A	ENST00000471857.1	+	0	253																											GATGTGTCATCTGGATGACCC	0.443000													13	150					0.000151284	0.00220707	0.001855	1	0
KIF4A	24137	broad.mit.edu	37	X	69510347	69510347	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:69510347G>A	ENST00000374403.3	+	2	121	c.39G>A	c.(37-39)gcG>gcA	p.A13A	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.A13A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	13	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAGAGTGGCGCTGCGTTGTC	0.557000													9	50					0	0	0.004482	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596202	24596202	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr6:24596202C>G	ENST00000535378.1	-	4	1315	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L	KIAA0319_ENST00000537886.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V189L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V234L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.V234L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	234					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGAAGCAACACACTTCTCTCA	0.542000													3	69					0	0	0.004672	0	0
KEAP1	9817	broad.mit.edu	37	19	10610205	10610205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:10610205G>A	ENST00000171111.5	-	2	1052	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R169C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R169C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGCAGGCACGGACAACGCTG	0.582000													6	64					0	0	0.003080	0	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388000													4	65					0	0	0.000248	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	53					0	0	0.000602	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135754234	135754234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chrX:135754234C>A	ENST00000250617.6	-	20	3285	c.2080G>T	c.(2080-2082)Gag>Tag	p.E694*	ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E540*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E567*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E540*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	694					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTTTCTCTTCCTCAGGG	0.473000													13	159					0.000219431	0.00316608	0.002450	1	0
KMT2A	4297	broad.mit.edu	37	11	118375875	118375875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr11:118375875C>T	ENST00000534358.1	+	27	9291	c.9268C>T	c.(9268-9270)Cca>Tca	p.P3090S	KMT2A_ENST00000389506.5_Missense_Mutation_p.P3087S|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3049S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAACATGCAGCCACTTTATGT	0.468000													17	137					0	0	0.004007	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000													3	41					0	0	0.004672	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173364	86173364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr1:86173364C>T	ENST00000431532.2	-	2	635	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.E202K	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	202	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATCGGAGGCTCTTCTTTCACC	0.463000													8	153					0	0	0.003080	0	0
NEK1	4750	broad.mit.edu	37	4	170523716	170523716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:170523716delT	ENST00000439128.2	-	2	706	c.66delA	c.(64-66)aafs	p.K22fs	NEK1_ENST00000510533.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000507142.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000511633.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.K22fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	22	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGATTTAACAAGAA	0.318													22	165	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													4	9	---	---	---	---					
ATP2C2	9914	broad.mit.edu	37	16	84492766	84492766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:84492766delA	ENST00000416219.2	+	22	2277	c.2188delA	c.(2188-2190)aafs	p.K730fs	ATP2C2_ENST00000262429.4_Frame_Shift_Del_p.K730fs|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	730					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTACAACATCAAAAACTTTGT	0.557													7	92	---	---	---	---					
LINC01233	100128139	broad.mit.edu	37	19	22715888	22715888	+	RNA	DEL	C	C	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:22715888delC	ENST00000598832.1	+	0	289																											AGCACATTTGCCCCCCTTTCC	0.617													2	4	---	---	---	---					
NEK1	4750	broad.mit.edu	37	4	170523716	170523716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr4:170523716delT	ENST00000439128.2	-	2	706	c.66delA	c.(64-66)aafs	p.K22fs	NEK1_ENST00000507142.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000512193.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000510533.1_Frame_Shift_Del_p.K22fs|NEK1_ENST00000511633.1_Frame_Shift_Del_p.K22fs	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	22	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGATTTAACAAGAA	0.318													22	165	---	---	---	---					
CUX1	1523	broad.mit.edu	37	7	101892133	101892135	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr7:101892133_101892135delCAG	ENST00000360264.3	+	24	4382_4384	c.4362_4364delCAG	c.(4360-4365)aac>aa	p.NS1454del	CUX1_ENST00000549414.2_In_Frame_Del_p.NS1421del|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_In_Frame_Del_p.NS1285del|CUX1_ENST00000550008.2_In_Frame_Del_p.NS1387del|CUX1_ENST00000546411.2_In_Frame_Del_p.NS1341del|CUX1_ENST00000292535.7_In_Frame_Del_p.NS1443del|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1443					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCCAGCAACAGCAGCAGCAGC	0.823													2	4	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													4	9	---	---	---	---					
ATP2C2	9914	broad.mit.edu	37	16	84492766	84492766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr16:84492766delA	ENST00000416219.2	+	22	2277	c.2188delA	c.(2188-2190)aafs	p.K730fs	ATP2C2_ENST00000262429.4_Frame_Shift_Del_p.K730fs|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	730					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTACAACATCAAAAACTTTGT	0.557													7	92	---	---	---	---					
LINC01233	100128139	broad.mit.edu	37	19	22715888	22715888	+	RNA	DEL	C	C	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9619e49-7185-4158-9e8b-45d446960b60	55adfb2c-fd21-4dd9-b934-203e8d99eebb	g.chr19:22715888delC	ENST00000598832.1	+	0	289																											AGCACATTTGCCCCCCTTTCC	0.617													2	4	---	---	---	---