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
ZNF415	55786	broad.mit.edu	37	19	53612056	53612056	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:53612056G>A	ENST00000455735.2	-	7	1706	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000448501.1_Silent_p.C462C|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.C414C			Q09FC8	ZN415_HUMAN	zinc finger protein 415	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CACATTCATTGCATTTGTAAG	0.403000													23	41					0	0	0.016522	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588692	140588692	+	Missense_Mutation	SNP	C	C	A	rs145009914		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140588692C>A	ENST00000239450.2	+	1	402	c.213C>A	c.(211-213)aaC>aaA	p.N71K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAACAAAGAGTGTT	0.522000													31	62					2.08457e-15	2.70994e-15	0.045705	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967322	142967322	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:142967322T>A	ENST00000370494.1	+	1	150	c.120T>A	c.(118-120)gcT>gcA	p.A40A		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	40							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTGCTGGGGAATCAA	0.473000													53	35					0	0	0.048971	0	0
GAREM	64762	broad.mit.edu	37	18	29867752	29867752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:29867752G>A	ENST00000399218.4	-	4	863	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.R270C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.R270C(1)									AACTTATAGCGGTGCCCCTCA	0.527000													16	67					0	0	0.028581	0	0
FER1L6	654463	broad.mit.edu	37	8	125061872	125061872	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:125061872A>G	ENST00000522917.1	+	22	2955	c.2749A>G	c.(2749-2751)Aca>Gca	p.T917A	FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	917	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGGGTGCCACAGTGGCTGC	0.473000													14	49					0	0	0.016723	0	0
CDH19	28513	broad.mit.edu	37	18	64202289	64202289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:64202289T>C	ENST00000262150.2	-	8	1562	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	CDH19_ENST00000540086.1_Missense_Mutation_p.T424A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAGTTACTTGTAGTGATTGTA	0.328000													4	33					0	0	0.009096	0	0
WDR72	256764	broad.mit.edu	37	15	54003099	54003099	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:54003099G>T	ENST00000396328.1	-	9	1148	c.909C>A	c.(907-909)acC>acA	p.T303T	WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000360509.5_Silent_p.T303T|WDR72_ENST00000559418.1_Silent_p.T315T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	303										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGGATAAATGGTCTCTTTAA	0.383000													9	49					3.07112e-06	3.3403e-06	0.010729	1	0
IQGAP2	10788	broad.mit.edu	37	5	75954373	75954373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:75954373G>T	ENST00000274364.6	+	21	2707	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAACTAGAGGTTGCACGATT	0.448000													37	45					2.19358e-23	3.00928e-23	0.023175	1	0
ADSL	158	broad.mit.edu	37	22	40757500	40757500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757500G>T	ENST00000216194.7	+	9	927	c.871G>T	c.(871-873)Gcg>Tcg	p.A291S	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291S|ADSL_ENST00000454266.2_Missense_Mutation_p.A305S	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGGCTCAAGTGCGATGCCATA	0.522000													17	99					1.01871e-10	1.25274e-10	0.049695	1	0
DNAH7	56171	broad.mit.edu	37	2	196834805	196834805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:196834805C>T	ENST00000312428.6	-	17	2172	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	691	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCACAAACCGTTCACACCG	0.323000													19	54					0	0	0.014323	0	0
KLHL40	131377	broad.mit.edu	37	3	42727527	42727527	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:42727527C>T	ENST00000287777.4	+	1	517	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_152393.2	NP_689606.2			kelch-like family member 40																		TCTTCCGTCTCGGCCTCCTGC	0.652000													52	50					0	0	0.048971	0	0
SLIT3	6586	broad.mit.edu	37	5	168135107	168135107	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:168135107T>G	ENST00000519560.1	-	26	3139		c.e26-2		SLIT3_ENST00000332966.8_Silent_p.P913P|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Splice_Site|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGGCCCTGGGCAGCAAA	0.612000													5	41					0	0	0.021553	0	0
NLRP12	91662	broad.mit.edu	37	19	54313980	54313980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54313980G>T	ENST00000324134.6	-	3	1101	c.933C>A	c.(931-933)tgC>tgA	p.C311*	NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	311	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCAGAGGCACCAGGGTC	0.567000													14	46					2.32078e-09	2.75467e-09	0.024245	1	0
WDR90	197335	broad.mit.edu	37	16	701826	701826	+	Splice_Site	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:701826G>T	ENST00000549091.1	+	9	932		c.e9-1		WDR90_ENST00000293879.4_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCCCCAGCAGTCCGGCCGGG	0.687000													20	49					7.41877e-09	8.69238e-09	0.062417	1	0
COL4A1	1282	broad.mit.edu	37	13	110833680	110833680	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:110833680A>G	ENST00000375820.4	-	29	2273	c.2152T>C	c.(2152-2154)Ttt>Ctt	p.F718L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	718	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCATTAAATCCCGGGCGA	0.502000													7	45					0	0	0.047766	0	0
NCR2	9436	broad.mit.edu	37	6	41318574	41318574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:41318574G>C	ENST00000373089.5	+	5	891	c.803G>C	c.(802-804)aGc>aCc	p.S268T	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	268					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					actaagataagcgatgatgat	0.408000													16	34					0	0	0.024245	0	0
PTPRB	5787	broad.mit.edu	37	12	70954538	70954538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:70954538C>T	ENST00000334414.6	-	17	4389	c.4345G>A	c.(4345-4347)Ggc>Agc	p.G1449S	PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1231S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1231	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAACAAGGCCTTGAAACCGC	0.493000													15	47					0	0	0.020292	0	0
KLHL2	11275	broad.mit.edu	37	4	166232680	166232680	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:166232680T>C	ENST00000226725.6	+	11	1561	c.1302T>C	c.(1300-1302)aaT>aaC	p.N434N	KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000506761.1_Silent_p.N268N|KLHL2_ENST00000421009.2_Silent_p.N337N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	434					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTCCCATGAATACAAGGAGGA	0.418000													29	155					0	0	0.050027	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521053	33521053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:33521053C>A	ENST00000297307.5	-	1	359	c.274G>T	c.(274-276)Gac>Tac	p.D92Y		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	92	DUF6 1.					integral to membrane											AGAAGGGGGTCGCCACGCAGT	0.582000													88	120					9.24773e-40	1.29468e-39	0.048971	1	0
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	rs139271211		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248059405G>A	ENST00000537741.1	+	3	774	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OR2W3_ENST00000360358.3_Missense_Mutation_p.E173K			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657000													41	76					0	0	0.025465	0	0
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:59112625C>A	ENST00000395153.3	+	4	1320	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	DACT1_ENST00000335867.4_Silent_p.A428A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000395151.3_Silent_p.A147A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597000													7	46					5.18039e-06	5.58991e-06	0.038147	1	0
EEA1	8411	broad.mit.edu	37	12	93221688	93221688	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:93221688C>A	ENST00000322349.8	-	12	1668	c.1404_splice	c.e12+1	p.Q468_splice		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	468	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTAGCTTACCTGCTCTTCTA	0.348000													43	129					1.00953e-15	1.31867e-15	0.045515	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113634611	113634611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113634611C>T	ENST00000358160.4	+	10	1508	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CATATCAGTGCTGACAGAATG	0.338000													11	40					0	0	0.008291	0	0
ABCC2	1244	broad.mit.edu	37	10	101591889	101591889	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:101591889G>A	ENST00000370449.4	+	23	3371		c.e23+1			NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTGCCGGCGTAAGTATCTC	0.433000													10	63					0	0	0.008291	0	0
ZNF432	9668	broad.mit.edu	37	19	52537631	52537631	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52537631C>A	ENST00000594154.1	-	5	1513	c.1301G>T	c.(1300-1302)tGt>tTt	p.C434F	ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F			O94892	ZN432_HUMAN	zinc finger protein 432	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACCTTTTCCACATTCACTACA	0.408000													16	71					6.31663e-08	7.18516e-08	0.024245	1	0
MMP13	4322	broad.mit.edu	37	11	102825316	102825316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:102825316C>G	ENST00000260302.3	-	3	410	c.382G>C	c.(382-384)Gat>Cat	p.D128H	MMP13_ENST00000340273.4_Missense_Mutation_p.D128H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	128					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGAGTCATATCAGGGGTGTAA	0.348000													12	79					0	0	0.033300	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:118556735T>C	ENST00000360388.4	+	3	614	c.413T>C	c.(412-414)aTa>aCa	p.I138T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433000													23	46					0	0	0.014323	0	0
ALG13	79868	broad.mit.edu	37	X	110951259	110951259	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:110951259C>G	ENST00000394780.3	+	4	400	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	130					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCACAGGGTCCTGACTTGTCC	0.512000													7	7					0	0	0.029380	0	0
LHFP	10186	broad.mit.edu	37	13	39952615	39952615	+	Missense_Mutation	SNP	C	C	T	rs142526688	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:39952615C>T	ENST00000379589.3	-	3	896	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	145						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTTCCTCACTGTCCCAGCC	0.502000			T	HMGA2	lipoma								10	47					0	0	0.020292	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537198	5537198	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5537198T>A	ENST00000380184.1	-	1	737	c.474A>T	c.(472-474)aaA>aaT	p.K158N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGTATGCACTTTGGGTGCAT	0.507000													28	49					0	0	0.027356	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065526	55065526	+	RNA	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:55065526C>A	ENST00000526016.1	-	0	182					NR_038174.2																						GCAATGGAAGCCATGTTCTTC	0.463000													10	14					1.33987e-11	1.67791e-11	0.008291	1	0
SEC31A	22872	broad.mit.edu	37	4	83748592	83748592	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:83748592C>G	ENST00000432794.1	-	25	3423	c.3260G>C	c.(3259-3261)gGc>gCc	p.G1087A	SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A|SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000395310.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1074	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGGTGGCATGCCTGTTTGACC	0.502000													30	147					0	0	0.041601	0	0
SPDL1	54908	broad.mit.edu	37	5	169015579	169015579	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:169015579G>C	ENST00000265295.4	+	2	438	c.159_splice	c.e2+1	p.E53_splice	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CCATGACTGAGGTAGGACTCT	0.363000													9	38					0	0	0.008291	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581990	84581990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:84581990C>A	ENST00000286744.5	+	16	2071	c.1847C>A	c.(1846-1848)aCc>aAc	p.T616N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	616	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGCTGCCCACCGAACGGCCC	0.617000													10	38					7.48243e-07	8.27005e-07	0.058154	1	0
L3MBTL4	91133	broad.mit.edu	37	18	5956275	5956275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:5956275G>A	ENST00000284898.6	-	20	2016	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	606	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTGGGAATGCCTGAACATC	0.498000													48	184					0	0	0.048971	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856508	93856508	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:93856508G>T	ENST00000513200.3	-	4	487	c.415C>A	c.(415-417)Cat>Aat	p.H139N	KIAA0825_ENST00000329378.7_Missense_Mutation_p.H139N|KIAA0825_ENST00000427991.2_Missense_Mutation_p.H139N|KIAA0825_ENST00000312498.7_Missense_Mutation_p.H139N	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAGAGGAAATGGAAAGATGTT	0.413000													4	37					0.00024832	0.000258746	0.009096	1	0
CELSR1	9620	broad.mit.edu	37	22	46806456	46806456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:46806456G>A	ENST00000262738.3	-	7	4771	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1591	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATCCAGGGACCTGGGTAG	0.642000													32	26					0	0	0.019004	0	0
BRIP1	83990	broad.mit.edu	37	17	59763502	59763502	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763502T>A	ENST00000259008.2	-	19	2867	c.2600A>T	c.(2599-2601)cAg>cTg	p.Q867L	BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	867					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTGCTGAATCTGCTGCCGTAC	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					9	83					0	0	0.016723	0	0
NSD1	64324	broad.mit.edu	37	5	176721512	176721512	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176721512C>A	ENST00000439151.2	+	23	7188	c.7143C>A	c.(7141-7143)ccC>ccA	p.P2381P	NSD1_ENST00000347982.4_Silent_p.P2112P|NSD1_ENST00000354179.4_Silent_p.P2112P|NSD1_ENST00000361032.4_Silent_p.P2278P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2381	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTCAGTTCCCACTGGCCTGA	0.562000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	63					2.31682e-05	2.47067e-05	0.024245	1	0
COL5A1	1289	broad.mit.edu	37	9	137704317	137704317	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:137704317A>G	ENST00000371817.3	+	47	4127	c.3713A>G	c.(3712-3714)gAg>gGg	p.E1238G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1238	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCAGGCGAGAAGGGTGAG	0.527000													6	40					0	0	0.038147	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673889	20673889	+	Missense_Mutation	SNP	C	C	T	rs151244472	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:20673889C>T	ENST00000525748.1	+	15	2398	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	709					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGCTCTTACCGCTATCCTAA	0.488000													18	107					0	0	0.043863	0	0
ACSL4	2182	broad.mit.edu	37	X	108904779	108904779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:108904779T>C	ENST00000340800.2	-	15	2305	c.1801A>G	c.(1801-1803)Atc>Gtc	p.I601V	ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V|ACSL4_ENST00000469796.2_Missense_Mutation_p.I601V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	601					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AAAGCACAGATGTTGTCAATA	0.333000													22	19					0	0	0.016522	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369912	20369912	+	RNA	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:20369912C>T	ENST00000593655.1	-	0	199																											AGGCGGCTGACATTGATACCA	0.413000													15	26					0	0	0.020292	0	0
TSEN34	79042	broad.mit.edu	37	19	54695621	54695621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54695621G>A	ENST00000396383.1	+	3	604	c.293G>A	c.(292-294)aGc>aAc	p.S98N	TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	98					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGAGCAGAGCGCCTTGGCA	0.582000													25	72					0	0	0.024334	0	0
ABCA1	19	broad.mit.edu	37	9	107547893	107547893	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:107547893T>C	ENST00000374736.3	-	49	6823	c.6429A>G	c.(6427-6429)gtA>gtG	p.V2143V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2143	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCTATTCGTACAACTATTG	0.428000													11	63					0	0	0.016723	0	0
CHRM2	1129	broad.mit.edu	37	7	136700500	136700500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:136700500G>C	ENST00000445907.2	+	3	1416	c.888G>C	c.(886-888)atG>atC	p.M296I	CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I|CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	296					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCTAATATGAGAGATGATG	0.478000													9	67					0	0	0.010729	0	0
SBK1	388228	broad.mit.edu	37	16	28331653	28331653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:28331653C>T	ENST00000341901.4	+	4	1475	c.686C>T	c.(685-687)gCg>gTg	p.A229V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	229	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GACGGGCTGGCGGTGGACACG	0.736000													8	19					0	0	0.047766	0	0
ASPM	259266	broad.mit.edu	37	1	197091420	197091420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:197091420C>G	ENST00000367409.4	-	15	3866	c.3610G>C	c.(3610-3612)Gag>Cag	p.E1204Q	ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1204	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATAGCTCTGAAGTATTT	0.363000													18	45					0	0	0.038395	0	0
HEPH	9843	broad.mit.edu	37	X	65480093	65480093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:65480093T>C	ENST00000519389.1	+	19	3529	c.3350T>C	c.(3349-3351)tTt>tCt	p.F1117S	HEPH_ENST00000419594.1_Missense_Mutation_p.F874S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S|HEPH_ENST00000343002.2_Missense_Mutation_p.F1063S|HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000336279.5_Missense_Mutation_p.F796S			Q9BQS7	HEPH_HUMAN	hephaestin	1063					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.F1063C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCACTGTTTTTTCTCGAACA	0.473000													17	12					0	0	0.028581	0	0
SLC7A14	57709	broad.mit.edu	37	3	170185021	170185021	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:170185021T>C	ENST00000231706.4	-	8	2453	c.2138A>G	c.(2137-2139)gAg>gGg	p.E713G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	713						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTCTCGCCCTCTGTGGCGTA	0.572000													24	48					0	0	0.021523	0	0
ANK1	286	broad.mit.edu	37	8	41572572	41572572	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:41572572G>A	ENST00000396942.1	-	15	1706	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000396945.1_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000347528.4_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	541	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.H541H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCGCCACGTGCAGAGGGG	0.627000													24	67					0	0	0.018920	0	0
DRD3	1814	broad.mit.edu	37	3	113866346	113866346	+	Missense_Mutation	SNP	G	G	A	rs141573183		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113866346G>A	ENST00000383673.2	-	4	872	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	DRD3_ENST00000460779.1_Missense_Mutation_p.R148W|DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000467632.1_Missense_Mutation_p.R148W	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	148					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562000													4	69					0	0	0.014758	0	0
FAM208B	54906	broad.mit.edu	37	10	5789010	5789010	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5789010C>G	ENST00000328090.5	+	15	4251	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1209																	GTGGACTCATCATCAGCCTCT	0.473000													19	69					0	0	0.055883	0	0
OR5B3	441608	broad.mit.edu	37	11	58170004	58170004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:58170004C>G	ENST00000309403.2	-	1	878	c.879G>C	c.(877-879)aaG>aaC	p.K293N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCACTTCCTTGTTCCTCA	0.438000													6	94					0	0	0.013537	0	0
COL5A2	1290	broad.mit.edu	37	2	189962019	189962019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:189962019C>T	ENST00000374866.3	-	6	714	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	147					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTTTGGCCCTCGCTCTCC	0.443000													8	55					0	0	0.058154	0	0
ZNF862	643641	broad.mit.edu	37	7	149545456	149545456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:149545456G>A	ENST00000223210.4	+	4	1119	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAATCACTGATGGCATCCA	0.403000													3	14					0	0	0.009096	0	0
TRIM42	287015	broad.mit.edu	37	3	140409849	140409849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:140409849G>A	ENST00000286349.3	+	4	2091	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	634	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTCTTTTGAGATGGAATT	0.418000													19	78					0	0	0.062417	0	0
PARD3	56288	broad.mit.edu	37	10	34690830	34690830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:34690830C>T	ENST00000374789.3	-	6	1055	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K|PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTATCCTCTTCTGTCCCATCC	0.428000													58	119					0	0	0.048971	0	0
NLRC3	197358	broad.mit.edu	37	16	3602217	3602217	+	RNA	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:3602217T>C	ENST00000301749.7	-	0	2735				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGACTCCTGTTCTGCTTCAA	0.532000													35	46					0	0	0.021022	0	0
CRTC3	64784	broad.mit.edu	37	15	91083350	91083350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:91083350G>A	ENST00000420329.2	+	2	359	c.212G>A	c.(211-213)aGc>aAc	p.S71N	CRTC3_ENST00000268184.6_Missense_Mutation_p.S71N|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	71	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCTGCGGAGCAGTGCGTCA	0.413000			T	MAML2	salivary gland mucoepidermoid								29	40					0	0	0.054565	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:142437153G>T	ENST00000520105.1	+	4	1256	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PTP4A3_ENST00000521578.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682000													27	147					8.53417e-09	9.95654e-09	0.054565	1	0
SGMS2	166929	broad.mit.edu	37	4	108831579	108831579	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:108831579A>T	ENST00000394684.4	+	7	1525	c.968A>T	c.(967-969)aAa>aTa	p.K323I	SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TTTTTTGAGAAAAATGTACAA	0.398000													29	30					0	0	0.037714	0	0
TCTN1	79600	broad.mit.edu	37	12	111078896	111078896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:111078896G>T	ENST00000551590.1	+	9	1202	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V|TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V			Q2MV58	TECT1_HUMAN	tectonic family member 1	349					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTCGTTCTGGGGACAGTTAGC	0.393000													47	101					2.52991e-16	3.33654e-16	0.048971	1	0
CC2D2A	57545	broad.mit.edu	37	4	15556795	15556795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:15556795A>G	ENST00000424120.1	+	20	2841	c.2587A>G	c.(2587-2589)Aat>Gat	p.N863D	CC2D2A_ENST00000503292.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	863					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTCGACCCAAATGACCCCAA	0.463000													10	27					0	0	0.008291	0	0
LILRB5	10990	broad.mit.edu	37	19	54761048	54761048	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54761048G>A	ENST00000450632.1	-	1	86	c.9C>T	c.(7-9)ctC>ctT	p.L3L	LILRB5_ENST00000345866.6_Silent_p.L3L|LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000316219.5_Silent_p.L3L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	3					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGAGGGTGAGGGTCATGG	0.587000													9	44					0	0	0.058154	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820232	50820232	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:50820232C>T	ENST00000374115.3	+	1	1886	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	482					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTTCCGAGCGCGATGTGCTGC	0.667000													40	42					0	0	0.027894	0	0
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Missense_Mutation	SNP	C	C	G	rs151231252		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:198950188C>G	ENST00000428675.1	+	2	2345	c.1947C>G	c.(1945-1947)atC>atG	p.I649M	PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423000													5	45					0	0	0.014758	0	0
JDP2	122953	broad.mit.edu	37	14	75936093	75936093	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:75936093G>A	ENST00000435893.2	+	4	680	c.407G>A	c.(406-408)cGc>cAc	p.R136H	JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000419727.2_Missense_Mutation_p.R136H|JDP2_ENST00000267569.5_Missense_Mutation_p.R147H	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	136						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AACCGACACCGCCCCACCTGC	0.607000													17	40					0	0	0.033300	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559422	44559422	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:44559422C>T	ENST00000332567.4	-	1	2566	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	738					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGGCCATCAGCGGGGCCA	0.562000													21	127					0	0	0.016522	0	0
GPAA1	8733	broad.mit.edu	37	8	145140516	145140516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:145140516C>A	ENST00000355091.4	+	11	1613	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	498					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGATGGCACTGAAGCTGGT	0.597000													30	97					4.74835e-14	6.08592e-14	0.045705	1	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:117013751C>T	ENST00000306985.4	+	2	158	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627000													33	29					0	0	0.054565	0	0
GJA8	2703	broad.mit.edu	37	1	147380527	147380527	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:147380527A>T	ENST00000240986.4	+	2	498	c.445A>T	c.(445-447)Agg>Tgg	p.R149W	GJA8_ENST00000369235.1_Missense_Mutation_p.R149W	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	149					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTGCTGAGGACCTACAT	0.607000													20	115					0	0	0.043863	0	0
ENPP3	5169	broad.mit.edu	37	6	132039838	132039838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:132039838G>A	ENST00000414305.1	+	17	1767	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E|ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	480	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATTGTGGAGGAGGCAACCAT	0.294000													25	67					0	0	0.034045	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136622	9136622	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9136622C>A	ENST00000382496.5	-	13	2258	c.1593G>T	c.(1591-1593)gcG>gcT	p.A531A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	531					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACCGGACACGCAGAGATGC	0.587000													4	27					0.00024832	0.000258746	0.009096	1	0
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:113256689C>A	ENST00000297405.5	-	65	10580	c.10336G>T	c.(10336-10338)Ggt>Tgt	p.G3446C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	75					3.41278e-10	4.15933e-10	0.033300	1	0
ASXL3	80816	broad.mit.edu	37	18	31323155	31323155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:31323155C>G	ENST00000269197.5	+	12	3343	c.3343C>G	c.(3343-3345)Caa>Gaa	p.Q1115E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAAAGCATCAAGCTCGAGC	0.527000													4	23					0	0	0.009096	0	0
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:10401651G>A	ENST00000397077.1	-	12	2256	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577000													53	42					0	0	0.048971	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168941	42168941	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:42168941T>A	ENST00000444063.1	+	17	2186	c.2054T>A	c.(2053-2055)aTc>aAc	p.I685N	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I685N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I753N|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I753N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I690N			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	685	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AAGTGGACCATCGATGAGGTG	0.612000													34	43					0	0	0.019004	0	0
KIRREL	55243	broad.mit.edu	37	1	158059256	158059256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:158059256C>G	ENST00000368172.1	+	5	463	c.451C>G	c.(451-453)Cct>Gct	p.P151A	KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000359209.6_Intron|KIRREL_ENST00000368173.3_Missense_Mutation_p.P353A|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000416935.2_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCAGGCCTCCTGGCTCCCC	0.617000													8	35					0	0	0.008291	0	0
AGAP4	119016	broad.mit.edu	37	10	46322017	46322017	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:46322017C>T	ENST00000448048.2	-	7	1463	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	446	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						TGTTTTGGATCGACTGCAGGG	0.552000													63	48					0	0	0.048971	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000439	16000439	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:16000439C>G	ENST00000221700.5	-	7	807	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E89Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E238Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	238					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAGGATCTCATGGTGTCTT	0.512000													9	131					0	0	0.028581	0	0
SNRPN	6638	broad.mit.edu	37	15	25221556	25221556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:25221556C>T	ENST00000444203.2	+	4	1311	c.272C>T	c.(271-273)cCc>cTc	p.P91L	SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P87L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCCACCCCCCAAAGATGTA	0.488000									Prader-Willi syndrome				12	51					0	0	0.016723	0	0
PCYT2	5833	broad.mit.edu	37	17	79865452	79865452	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79865452T>C	ENST00000538936.2	-	6	623	c.515A>G	c.(514-516)gAg>gGg	p.E172G	PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G|PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	172	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTCTGCATACTCCCGGTACTC	0.667000													3	9					0	0	0.004672	0	0
PAAF1	80227	broad.mit.edu	37	11	73620473	73620473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:73620473G>A	ENST00000544909.1	+	5	822	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G188R|PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	188					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CGTTGATCGGGGGAGGAATGT	0.507000													12	85					0	0	0.024245	0	0
LAMA2	3908	broad.mit.edu	37	6	129674405	129674405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129674405C>G	ENST00000421865.2	+	32	4669	c.4620C>G	c.(4618-4620)gaC>gaG	p.D1540E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1540	Laminin EGF-like 17.				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)		TGCCCTGTGACCCTGTCACAG	0.602000													23	50					0	0	0.018920	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734432	12734432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:12734432T>A	ENST00000380682.1	+	15	2360	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGCCCCCTGTGAGGCAGACT	0.532000													47	30					0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141027836G>C	ENST00000389484.3	-	86	14193	c.13222C>G	c.(13222-13224)Ccc>Gcc	p.P4408A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403000										TSP Lung(27;0.18)			19	38					0	0	0.062417	0	0
C10orf76	79591	broad.mit.edu	37	10	103789339	103789339	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:103789339C>A	ENST00000311122.5	-	5	589	c.470G>T	c.(469-471)tGg>tTg	p.W157L	C10orf76_ENST00000370033.4_Intron			Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	0						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGATAGTGTCCAGGAACAGCT	0.438000													11	54					3.86212e-05	4.08666e-05	0.008291	1	0
LAMA2	3908	broad.mit.edu	37	6	129714275	129714275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129714275G>T	ENST00000421865.2	+	37	5369	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1774	Domain II and I.				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)		GGATCTCCGGGAAAAACTGGC	0.448000													17	47					4.7546e-09	5.59486e-09	0.028581	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	11					0.004672	0.00477699	0.004672	1	0
TMEM213	155006	broad.mit.edu	37	7	138487681	138487681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:138487681G>A	ENST00000442682.2	+	3	344	c.191G>A	c.(190-192)cGc>cAc	p.R64H	TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H|TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CGGTGCTGCCGCACAGGAGTG	0.627000													19	36					0	0	0.055883	0	0
NDST4	64579	broad.mit.edu	37	4	115998155	115998155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:115998155G>T	ENST00000264363.2	-	2	716	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	13						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348000													4	20					0.00909568	0.00923093	0.009096	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2408379	2408379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:2408379G>A	ENST00000332578.3	+	7	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	256	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTGGGTGGCCTACGTGGG	0.672000													17	21					0	0	0.062417	0	0
ATRX	546	broad.mit.edu	37	X	76907828	76907828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:76907828C>G	ENST00000373344.5	-	15	4547	c.4333G>C	c.(4333-4335)Gaa>Caa	p.E1445Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1445	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	tcctcctcttcttcctcAGAA	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	21					0	0	0.055883	0	0
ADSL	158	broad.mit.edu	37	22	40757501	40757501	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757501C>G	ENST00000216194.7	+	9	928	c.872C>G	c.(871-873)gCg>gGg	p.A291G	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291G|ADSL_ENST00000454266.2_Missense_Mutation_p.A305G	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.A291V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GGCTCAAGTGCGATGCCATAT	0.527000													18	98					0	0	0.055883	0	0
EIF2B3	8891	broad.mit.edu	37	1	45444037	45444037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:45444037C>T	ENST00000360403.2	-	3	370	c.244G>A	c.(244-246)Gct>Act	p.A82T	EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	82					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCATGTCAGCGTCATCAGGA	0.363000													62	106					0	0	0.048971	0	0
MMRN1	22915	broad.mit.edu	37	4	90856493	90856493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:90856493G>T	ENST00000394980.1	+	7	1981	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N			Q13201	MMRN1_HUMAN	multimerin 1	554					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAATATAAAGAAGCAGAGTT	0.383000													10	59					5.50884e-06	5.92092e-06	0.013537	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724486	7724486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:7724486G>T	ENST00000303635.7	+	9	2086	c.1879G>T	c.(1879-1881)Gtc>Ttc	p.V627F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCTCCCCGTCGAGCAGAA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								79	81					2.27196e-54	3.19714e-54	0.048971	1	0
SYNE3	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	T	rs143391386		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:95922000G>T	ENST00000334258.5	-	5	865	c.851C>A	c.(850-852)gCg>gAg	p.A284E	SYNE3_ENST00000557275.1_Missense_Mutation_p.A284E|SYNE3_ENST00000554873.1_Missense_Mutation_p.A41E|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284E	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AATGACACCCGCAGACTGCTC	0.567000													20	181					3.8784e-16	5.09041e-16	0.062417	1	0
FAM155A	728215	broad.mit.edu	37	13	108518775	108518775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:108518775C>A	ENST00000375915.2	-	1	308	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	57						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCGCAGAACCACAAGTGATC	0.602000													75	74					1.23106e-19	1.66375e-19	0.048971	1	0
SYBU	55638	broad.mit.edu	37	8	110587410	110587410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:110587410G>C	ENST00000399066.3	-	6	2435	c.1708C>G	c.(1708-1710)Ctc>Gtc	p.L570V	SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000422135.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	573						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCTCATGAGGCGGTTTGCA	0.547000													12	69					0	0	0.010729	0	0
CACNG5	27091	broad.mit.edu	37	17	64881204	64881204	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64881204C>T	ENST00000533854.1	+	6	912	c.675C>T	c.(673-675)tcC>tcT	p.S225S	CACNG5_ENST00000307139.3_Silent_p.S225S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	225				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTGCTCCGATTACTCAG	0.622000													13	35					0	0	0.016723	0	0
SDK1	221935	broad.mit.edu	37	7	4188976	4188976	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:4188976C>T	ENST00000404826.2	+	30	4645	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G	SDK1_ENST00000389531.3_Silent_p.G1502G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1502	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTCCCGGGCAGCGACGGGG	0.677000													10	22					0	0	0.008291	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699222	60699222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:60699222G>T	ENST00000005286.4	+	6	1234	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G360C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	360						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTGGGGGCGTAGCGGT	0.567000													27	131					1.68575e-08	1.93366e-08	0.034045	1	0
CYP4F3	4051	broad.mit.edu	37	19	15760804	15760804	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15760804A>T	ENST00000221307.7	+	7	777	c.729A>T	c.(727-729)atA>atT	p.I243I	CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000586182.1_Silent_p.I243I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	243					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCCTGTACATAGACTTCCTGT	0.562000													7	71					0	0	0.045705	0	0
MYH15	22989	broad.mit.edu	37	3	108100408	108100408	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:108100408T>G	ENST00000273353.3	-	42	5883		c.e42-2			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTGAACCTGAAAAACAGA	0.453000													58	98					0	0	0.048971	0	0
RLF	6018	broad.mit.edu	37	1	40705888	40705888	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:40705888G>C	ENST00000372771.4	+	8	5541	c.5514G>C	c.(5512-5514)gaG>gaC	p.E1838D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1838					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATTCATGAGAACCTGACTG	0.398000													15	85					0	0	0.028581	0	0
WDR55	54853	broad.mit.edu	37	5	140048308	140048308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140048308G>T	ENST00000358337.5	+	4	729	c.492G>T	c.(490-492)atG>atT	p.M164I		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	164					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGATATGAGGCAACATG	0.537000													9	38					0.0477658	0.0482965	0.047766	1	0
TMEM167A	153339	broad.mit.edu	37	5	82357723	82357723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:82357723C>T	ENST00000502346.1	-	3	293	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	41						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						CAAAATATACCCAACAATCTG	0.303000													9	40					0	0	0.008291	0	0
EPHA2	1969	broad.mit.edu	37	1	16477390	16477390	+	Splice_Site	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:16477390C>G	ENST00000358432.5	-	2	308		c.e2+1		EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCTTACATACCCCTTTGCCA	0.617000													37	74					0	0	0.045515	0	0
LRP1B	53353	broad.mit.edu	37	2	141128763	141128763	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141128763A>G	ENST00000389484.3	-	70	11831	c.10860T>C	c.(10858-10860)gcT>gcC	p.A3620A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3620	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCAGCACAATCAT	0.303000										TSP Lung(27;0.18)			3	21					0	0	0.004672	0	0
CNTN6	27255	broad.mit.edu	37	3	1444056	1444056	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:1444056A>G	ENST00000446702.2	+	22	3499	c.2872A>G	c.(2872-2874)Aca>Gca	p.T958A	CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A			Q9UQ52	CNTN6_HUMAN	contactin 6	958	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAAACAATACATCAGCTGA	0.368000													19	21					0	0	0.043863	0	0
GLRB	2743	broad.mit.edu	37	4	158060002	158060002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:158060002G>T	ENST00000264428.4	+	7	922	c.652G>T	c.(652-654)Gga>Tga	p.G218*	GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	218					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGGCAGTCAGGAGATCCTGT	0.284000													12	70					2.61681e-11	3.24723e-11	0.020292	1	0
TDG	6996	broad.mit.edu	37	12	104373699	104373699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:104373699G>T	ENST00000392872.3	+	3	491	c.257G>T	c.(256-258)gGc>gTc	p.G86V	TDG_ENST00000266775.9_Missense_Mutation_p.G82V|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	86					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAATCTGGCAAGTCTGCA	0.338000								Base excision repair (BER), DNA glycosylases					14	79					1.52009e-12	1.92123e-12	0.024245	1	0
WWC1	23286	broad.mit.edu	37	5	167855056	167855056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:167855056G>T	ENST00000265293.4	+	12	2331	c.1829G>T	c.(1828-1830)gGg>gTg	p.G610V	WWC1_ENST00000521089.1_Missense_Mutation_p.G610V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	610					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGGCCCAGGGGTGTGGCCTG	0.542000													15	31					6.31663e-08	7.18516e-08	0.024245	1	0
DOCK4	9732	broad.mit.edu	37	7	111379256	111379256	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:111379256G>A	ENST00000428084.1	-	49	5438	c.5166C>T	c.(5164-5166)aaC>aaT	p.N1722N	DOCK4_ENST00000494651.2_Silent_p.N596N|DOCK4_ENST00000437633.1_Silent_p.N1713N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1713	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACAGGCAAGAGTTTTCTCGGG	0.483000													15	85					0	0	0.038395	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532025	84532025	+	RNA	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:84532025T>C	ENST00000527857.1	+	0	2047					NR_026851.1																						AGGTCCATGTTCCCATCTCCA	0.483000													8	39					0	0	0.047766	0	0
TCL6	27004	broad.mit.edu	37	14	96130030	96130030	+	RNA	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:96130030C>A	ENST00000467865.1	+	0	438				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GGACTTTAATCTTAAGTGGAC	0.423000			T	TRA@	T-ALL								15	27					2.61681e-11	3.24723e-11	0.020292	1	0
HTR1A	3350	broad.mit.edu	37	5	63256581	63256581	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:63256581C>T	ENST00000323865.3	-	1	1199	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATTTTTCCTCTCGAAAGAGG	0.617000													7	55					0	0	0.038147	0	0
RIPK2	8767	broad.mit.edu	37	8	90798848	90798848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:90798848G>A	ENST00000220751.4	+	9	1371	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	353					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAGCTCCATGAAAATAGTGG	0.318000													24	112					0	0	0.027356	0	0
KCTD3	51133	broad.mit.edu	37	1	215752341	215752341	+	Splice_Site	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:215752341A>G	ENST00000259154.4	+	7	691		c.e7-1			NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCTCTTTATAGGTATTCCTA	0.333000													4	28					0	0	0.014758	0	0
TECTA	7007	broad.mit.edu	37	11	120984288	120984288	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:120984288C>T	ENST00000392793.1	+	6	922	c.651C>T	c.(649-651)acC>acT	p.T217T	TECTA_ENST00000264037.2_Silent_p.T217T			O75443	TECTA_HUMAN	tectorin alpha	217	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACCTCACCAATTTCTTCA	0.468000													10	53					0	0	0.008291	0	0
GRID1	2894	broad.mit.edu	37	10	87614326	87614326	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:87614326C>A	ENST00000327946.7	-	8	1245	c.1160G>T	c.(1159-1161)aGt>aTt	p.S387I		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	387						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGATTCGAACTGTCCTCCCG	0.498000										Multiple Myeloma(13;0.14)			7	67					0.0581538	0.0585829	0.058154	1	0
RIMS3	9783	broad.mit.edu	37	1	41101587	41101587	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:41101587C>A	ENST00000372684.3	-	4	829		c.e4+1		RIMS3_ENST00000372683.1_Splice_Site	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3						neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGCACGCACGTGCCGTCGG	0.667000													14	55					1.15088e-07	1.30369e-07	0.028581	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68675796	68675796	+	Missense_Mutation	SNP	G	G	A	rs138448914	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:68675796G>A	ENST00000255078.3	+	3	551	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	147					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTACAGGCGACTGAAAAAG	0.453000													44	57					0	0	0.045515	0	0
FAM208B	54906	broad.mit.edu	37	10	5790610	5790610	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5790610G>A	ENST00000328090.5	+	15	5851	c.5226G>A	c.(5224-5226)aaG>aaA	p.K1742K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1742																	GTGAAACAAAGGAGCTATTGA	0.498000													13	40					0	0	0.013537	0	0
BEX4	56271	broad.mit.edu	37	X	102471104	102471104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:102471104C>A	ENST00000372695.5	+	3	258	c.23C>A	c.(22-24)gCg>gAg	p.A8E	BEX4_ENST00000372691.3_Missense_Mutation_p.A8E	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	8						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GAGGAACTAGCGGCAAACAAT	0.512000													20	21					7.21436e-19	9.60742e-19	0.049695	1	0
FER1L5	90342	broad.mit.edu	37	2	97370099	97370099	+	RNA	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:97370099G>A	ENST00000457909.1	+	0	5452							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						ATTCAGCTCCGGTGAGTGGCA	0.483000													58	120					0	0	0.048971	0	0
DHX8	1659	broad.mit.edu	37	17	41570954	41570954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:41570954G>A	ENST00000262415.3	+	7	1077	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	DHX8_ENST00000540306.1_Missense_Mutation_p.M335I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	335	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTGAGCATGAAGGTAGGTG	0.527000													15	70					0	0	0.020292	0	0
DCDC1	341019	broad.mit.edu	37	11	31327197	31327197	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:31327197C>A	ENST00000597505.1	-	4	718	c.719G>T	c.(718-720)gGa>gTa	p.G240V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G240V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	240	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAAGGGCTCTCCCGTTGAAAC	0.413000													31	69					6.05902e-23	8.27056e-23	0.064281	1	0
TRIM58	25893	broad.mit.edu	37	1	248028155	248028155	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248028155T>A	ENST00000366481.3	+	3	713	c.665T>A	c.(664-666)cTg>cAg	p.L222Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular	zinc ion binding	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692000													7	22					0	0	0.029380	0	0
IPO7	10527	broad.mit.edu	37	11	9459832	9459832	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:9459832G>A	ENST00000379719.3	+	22	2837	c.2695_splice	c.e22+1	p.E899_splice		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	899	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		tgatgaAACCGGTAAGGGATT	0.428000													32	33					0	0	0.037714	0	0
CSNK2A1	1457	broad.mit.edu	37	20	489118	489118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:489118G>T	ENST00000217244.3	-	3	453	c.78C>A	c.(76-78)taC>taA	p.Y26*	CSNK2A1_ENST00000460062.1_Intron|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400217.1_Intron	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.458000													33	29					1.59361e-14	2.05215e-14	0.027894	1	0
PCDHA2	56146	broad.mit.edu	37	5	140184653	140184653	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140184653C>T	ENST00000520672.2	+	2	2503	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron																NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATATGGAACTTCAATCTTC	0.358000													6	8					0	0	0.047766	0	0
PDX1	3651	broad.mit.edu	37	13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:28498541G>C	ENST00000381033.4	+	2	674	c.555G>C	c.(553-555)ttG>ttC	p.L185F		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	185					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587000													5	71					0	0	0.021553	0	0
ITPR2	3709	broad.mit.edu	37	12	26818845	26818845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:26818845G>A	ENST00000381340.3	-	14	1965	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AAATTCACCTGTGCCAGTATG	0.343000													21	50					0	0	0.016522	0	0
GALNT14	79623	broad.mit.edu	37	2	31133837	31133837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:31133837C>G	ENST00000349752.5	-	15	2228	c.1589G>C	c.(1588-1590)gGc>gCc	p.G530A	GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A|GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	530	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATTTCCTTGCCGTTCTCGGT	0.542000													16	71					0	0	0.043863	0	0
ACAN	176	broad.mit.edu	37	15	89398229	89398229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:89398229C>A	ENST00000439576.2	+	12	2787	c.2413C>A	c.(2413-2415)Cca>Aca	p.P805T	ACAN_ENST00000561243.1_Missense_Mutation_p.P805T|ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	805					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAACCATTCCCCTC	0.602000													7	8					0.000157383	0.000165252	0.038147	1	0
ABCA13	154664	broad.mit.edu	37	7	48312325	48312325	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:48312325T>A	ENST00000435803.1	+	17	3086	c.3062T>A	c.(3061-3063)cTt>cAt	p.L1021H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1021					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAGGTTCTTGGGGGAATT	0.338000													8	13					0	0	0.038147	0	0
PCDH10	57575	broad.mit.edu	37	4	134073285	134073285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:134073285G>T	ENST00000264360.4	+	1	2816	c.1990G>T	c.(1990-1992)Ggg>Tgg	p.G664W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	664	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCGACCATGGGCAGCCGCC	0.731000													5	35					0.000602214	0.000622744	0.014758	1	0
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:11918291G>A	ENST00000376468.3	-	2	465	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602000													23	32					0	0	0.018920	0	0
IFIH1	64135	broad.mit.edu	37	2	163134806	163134806	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:163134806C>A	ENST00000263642.2	-	9	2069	c.1674G>T	c.(1672-1674)atG>atT	p.M558I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	558					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GAATCCTTGTCATTATTTCTA	0.289000													5	38					1.23904e-05	1.3265e-05	0.014758	1	0
KRT34	3885	broad.mit.edu	37	17	39538432	39538432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:39538432G>T	ENST00000394001.1	-	1	223	c.193C>A	c.(193-195)Ccc>Acc	p.P65T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	65	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CAGCTGGGGGGCACGCAGGGC	0.622000													19	72					1.01871e-10	1.25274e-10	0.049695	1	0
CDHR2	54825	broad.mit.edu	37	5	176005489	176005489	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176005489G>A	ENST00000510636.1	+	16	1972	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	CDHR2_ENST00000261944.5_Silent_p.L566L|CDHR2_ENST00000506348.1_Silent_p.L566L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	566	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCGGGAACCTGTCCTCCTCCA	0.627000													4	23					0	0	0.014758	0	0
QSOX1	5768	broad.mit.edu	37	1	180159622	180159622	+	Missense_Mutation	SNP	C	C	T	rs143670617	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:180159622C>T	ENST00000367602.3	+	10	1269	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGTGAGCCGCATTTCCGGGG	0.557000													50	121					0	0	0.048971	0	0
LIN7A	8825	broad.mit.edu	37	12	81331469	81331469	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:81331469C>A	ENST00000552864.1	-	1	235	c.33G>T	c.(31-33)acG>acT	p.T11T		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCATGTCTGCCGTGGGAGCCG	0.637000													6	13					0.00198382	0.00203602	0.029380	1	0
KIF2B	84643	broad.mit.edu	37	17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:51900732C>T	ENST00000268919.4	+	1	494	c.338C>T	c.(337-339)aCg>aTg	p.T113M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTACCGCCACGAAATGGGTT	0.592000													19	92					0	0	0.043863	0	0
COL19A1	1310	broad.mit.edu	37	6	70778326	70778326	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:70778326G>T	ENST00000322773.4	+	15	1284	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G	COL19A1_ENST00000393344.1_Silent_p.G16G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	394	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTCCCTGGGGATACAAGGCC	0.418000													13	38					1.67942e-08	1.93366e-08	0.038395	1	0
TSR3	115939	broad.mit.edu	37	16	1400139	1400139	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:1400139C>A	ENST00000007390.2	-	4	729	c.623G>T	c.(622-624)tGc>tTc	p.C208F		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CGGGCTGCCGCAGGCCGCGTA	0.622000													17	18					1.5739e-10	1.92679e-10	0.028581	1	0
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:234367481G>A	ENST00000366618.3	+	3	747	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597000													23	138					0	0	0.014323	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499579	4499579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:4499579A>G	ENST00000301284.4	+	14	1731	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		556					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CCAAAGATCgaggcggtgcag	0.622000													8	3					0	0	0.038147	0	0
EDN3	1908	broad.mit.edu	37	20	57896161	57896161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:57896161C>T	ENST00000311585.7	+	3	825	c.455C>T	c.(454-456)tCa>tTa	p.S152L	EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L|EDN3_ENST00000337938.2_Missense_Mutation_p.S152L	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	152					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGCAGCTCTCACATCGGCCA	0.582000													33	77					0	0	0.054565	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919048	8919048	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:8919048G>T	ENST00000256707.3	-	19	2773	c.2592C>A	c.(2590-2592)gaC>gaA	p.D864E	KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	864	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCATGGAACGTCTCCATTTG	0.398000													17	114					1.33834e-09	1.59548e-09	0.043863	1	0
FBXO18	84893	broad.mit.edu	37	10	5953002	5953002	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5953002G>T	ENST00000379999.5	+	7	1379	c.1275G>T	c.(1273-1275)acG>acT	p.T425T	FBXO18_ENST00000379994.1_Silent_p.T111T|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.T374T	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	374				K -> N (in Ref. 2; AAP97705).	DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCTCCACGGTGACCATGC	0.582000													17	96					1.33834e-09	1.59548e-09	0.043863	1	0
ZNF506	440515	broad.mit.edu	37	19	19905448	19905448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:19905448C>G	ENST00000443905.2	-	4	1395	c.1248G>C	c.(1246-1248)aaG>aaC	p.K416N	ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N|ZNF506_ENST00000540806.2_Missense_Mutation_p.K416N|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TATGAATTTTCTTATGTTTAT	0.338000													28	29					0	0	0.030593	0	0
PCLO	27445	broad.mit.edu	37	7	82582945	82582945	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:82582945T>A	ENST00000423517.2	-	5	7661	c.7324A>T	c.(7324-7326)Aag>Tag	p.K2442*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.K2442*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTAACTTTTTTTTAGGA	0.498000													3	12					0	0	0.004672	0	0
MBD5	55777	broad.mit.edu	37	2	149226943	149226943	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:149226943A>T	ENST00000407073.1	+	9	2428	c.1431A>T	c.(1429-1431)gtA>gtT	p.V477V	MBD5_ENST00000404807.1_Silent_p.V477V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	477						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCACCTGTAGGACCCCAGG	0.502000													7	31					0	0	0.029380	0	0
OR52N4	390072	broad.mit.edu	37	11	5776293	5776293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5776293C>G	ENST00000317254.3	+	1	371	c.323C>G	c.(322-324)aCc>aGc	p.T108S	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCACCCACACCTTCACAGGG	0.483000													18	72					0	0	0.043863	0	0
FAM184A	79632	broad.mit.edu	37	6	119341265	119341265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:119341265C>A	ENST00000338891.7	-	4	1653	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	404										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTTCTGATTCTAAATCTTTA	0.363000													13	35					9.05144e-12	1.13873e-11	0.016723	1	0
TRPM3	80036	broad.mit.edu	37	9	73150933	73150933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:73150933C>A	ENST00000377110.2	-	25	5303	c.5060G>T	c.(5059-5061)aGc>aTc	p.S1687I	TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1712						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGGACAGGCTGTCCCCTCG	0.522000													40	72					2.19489e-29	3.05716e-29	0.025465	1	0
FMO4	2329	broad.mit.edu	37	1	171310604	171310604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:171310604G>T	ENST00000367749.3	+	10	1633	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	435					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCCTACATGGATGATATCGC	0.473000													18	34					1.45105e-14	1.87743e-14	0.038395	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886180	88886180	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:88886180C>G	ENST00000319675.3	-	1	116	c.20G>C	c.(19-21)cGa>cCa	p.R7P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	7										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCGAGCAGTCGCGGTCTTTT	0.522000													14	34					0	0	0.020292	0	0
RGL1	23179	broad.mit.edu	37	1	183876207	183876207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:183876207C>T	ENST00000304685.3	+	15	2100	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	RGL1_ENST00000539189.1_Missense_Mutation_p.R483W|RGL1_ENST00000360851.3_Missense_Mutation_p.R512W|RGL1_ENST00000367531.1_Missense_Mutation_p.R547W|RGL1_ENST00000536277.1_Missense_Mutation_p.R510W	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	512	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCCCAAGCCTCGGAAGAGCAT	0.557000													7	8					0	0	0.047766	0	0
CEP112	201134	broad.mit.edu	37	17	64062993	64062993	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64062993A>G	ENST00000392769.2	-	10	1076	c.858T>C	c.(856-858)atT>atC	p.I286I	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Silent_p.I244I|CEP112_ENST00000535342.2_Silent_p.I286I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	286						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCTTTCTAAAATCTGCAAAT	0.244000													7	13					0	0	0.029380	0	0
WDR78	79819	broad.mit.edu	37	1	67292591	67292591	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:67292591A>C	ENST00000371026.3	-	15	2306	c.2251T>G	c.(2251-2253)Tac>Gac	p.Y751D	WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCAACGTCGTAAACAACAGAA	0.398000													21	94					0	0	0.055883	0	0
CILP	8483	broad.mit.edu	37	15	65490300	65490300	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65490300A>G	ENST00000261883.4	-	9	2490	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	775					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATCACGGAGATCACAACCCC	0.562000													54	87					0	0	0.048971	0	0
NPHS1	4868	broad.mit.edu	37	19	36340485	36340485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:36340485G>T	ENST00000378910.5	-	6	678	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGATGGGGGCCTCCAGT	0.587000													28	55					1.30988e-24	1.80604e-24	0.045705	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092097	30092097	+	RNA	SNP	C	C	T	rs718721	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:30092097C>T	ENST00000567636.1	+	0	472					NR_003558.1																						TATTCTATGACTCTATGAAAA	0.348000													3	10					0	0	0.004672	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:99757693C>A	ENST00000360039.4	-	4	1711	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557000													14	67					1.05317e-09	1.26659e-09	0.020292	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37419231	37419231	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37419231T>G	ENST00000374660.1	+	3	366	c.267T>G	c.(265-267)taT>taG	p.Y89*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y89*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCTCCATTATGCTGTTTATA	0.433000													16	32					0	0	0.028581	0	0
PAPPA	5069	broad.mit.edu	37	9	119097340	119097340	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:119097340C>A	ENST00000328252.3	+	13	3967	c.3598C>A	c.(3598-3600)Cct>Act	p.P1200T	PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1200					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCTACAGCCCTGCCGAGCA	0.617000													9	54					0.00829132	0.00844601	0.008291	1	0
EGLN1	54583	broad.mit.edu	37	1	231556851	231556851	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:231556851T>G	ENST00000366641.3	-	1	3939	c.784A>C	c.(784-786)Aag>Cag	p.K262Q		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	262					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCGGGCTCCTTGCCCTCGATC	0.592000													58	66					0	0	0.048971	0	0
PIGK	10026	broad.mit.edu	37	1	77627356	77627356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:77627356C>A	ENST00000370812.3	-	7	648	c.625G>T	c.(625-627)Gca>Tca	p.A209S	PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	209					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TACATGGATGCTCCTTGGCAA	0.358000													35	59					1.36161e-19	1.83114e-19	0.019004	1	0
SLC30A2	7780	broad.mit.edu	37	1	26370885	26370885	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:26370885G>T	ENST00000374276.3	-	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCAGTGAGCAGGTGTGCT	0.597000													5	17					5.9392e-07	6.59106e-07	0.021553	1	0
STXBP4	252983	broad.mit.edu	37	17	53158524	53158524	+	Missense_Mutation	SNP	G	G	A	rs35447433	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:53158524G>A	ENST00000376352.2	+	16	1676	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	490						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATCTGTTCGTGCCTTACTT	0.378000													7	14					0	0	0.029380	0	0
ZNF135	7694	broad.mit.edu	37	19	58579086	58579086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58579086T>A	ENST00000506786.1	+	5	1662	c.1108T>A	c.(1108-1110)Tgt>Agt	p.C370S	ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000313434.5_Missense_Mutation_p.C412S|ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCCTATGAGTGTGGTGAGTG	0.542000													18	25					0	0	0.033300	0	0
COL11A1	1301	broad.mit.edu	37	1	103405901	103405901	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:103405901A>T	ENST00000358392.2	-	43	3719	c.3402T>A	c.(3400-3402)ccT>ccA	p.P1134P	COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000370096.3_Silent_p.P1122P|COL11A1_ENST00000512756.1_Silent_p.P1006P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1122	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTCTTCCCCAGGGGAGCCGG	0.463000													25	39					0	0	0.045705	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066107	241066107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:241066107C>A	ENST00000307266.3	-	5	631	c.632G>T	c.(631-633)aGc>aTc	p.S211I		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGTCTTCGCTGACCTCTCG	0.478000													41	57					2.66277e-13	3.38109e-13	0.027894	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122049	90122049	+	RNA	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:90122049T>A	ENST00000483379.1	+	0	448																											GCAGTGGATCTGGGACAGAAT	0.483000													61	96					0	0	0.048971	0	0
LPHN3	23284	broad.mit.edu	37	4	62758534	62758534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:62758534C>G	ENST00000512091.1	+	9	2184	c.1437C>G	c.(1435-1437)gaC>gaG	p.D479E	LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	479					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTTGATGACATGACCACAC	0.527000													9	42					0	0	0.058154	0	0
C11orf52	91894	broad.mit.edu	37	11	111796827	111796827	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:111796827G>T	ENST00000278601.5	+	4	372	c.276G>T	c.(274-276)gtG>gtT	p.V92V	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	92										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CCCGGGAAGTGAAACACGTGC	0.552000													7	49					8.12818e-05	8.56755e-05	0.029380	1	0
PCDHA8	56140	broad.mit.edu	37	5	140223207	140223207	+	Silent	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140223207G>C	ENST00000531613.1	+	1	2301	c.2301G>C	c.(2299-2301)acG>acC	p.T767T	PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAAGACGGACCTCATGG	0.572000													12	33					0	0	0.013537	0	0
NCAM1	4684	broad.mit.edu	37	11	113105876	113105876	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:113105876G>A	ENST00000316851.7	+	13	1785	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.T604T|NCAM1_ENST00000533760.1_Silent_p.T477T	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGTTCAAGACGCAGCCAGTCC	0.622000													5	17					0	0	0.014758	0	0
TRPC5	7224	broad.mit.edu	37	X	111097062	111097062	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:111097062T>A	ENST00000262839.2	-	4	2091	c.1173A>T	c.(1171-1173)acA>acT	p.T391T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	391					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGAAGGTCTGTCCTGACAA	0.483000													46	28					0	0	0.048971	0	0
ST5	6764	broad.mit.edu	37	11	8737365	8737365	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:8737365G>C	ENST00000534127.1	-	9	2015	c.1629_splice	c.e9-1	p.L544_splice	ST5_ENST00000357665.1_Splice_Site_p.L544_splice|ST5_ENST00000313726.6_Splice_Site_p.L544_splice|ST5_ENST00000526757.1_Splice_Site_p.L124_splice|ST5_ENST00000526099.1_Splice_Site_p.L57_splice|ST5_ENST00000530991.1_Splice_Site_p.L16_splice|ST5_ENST00000530438.1_Splice_Site_p.L124_splice	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	544					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCAGGGAAAGCTGGCGTGGG	0.632000													18	42					0	0	0.038395	0	0
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:20296501G>T	ENST00000315947.1	+	1	894	c.894G>T	c.(892-894)atG>atT	p.M298I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353000													14	28					1.5842e-08	1.83257e-08	0.016723	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374223	95374223	+	RNA	SNP	A	A	G	rs9839680	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:95374223A>G	ENST00000494840.1	-	0	1638					NR_077228.1																						ACGTATGTGCAGTGACATTAC	0.428000													3	29					0	0	0.009096	0	0
AC008268.2	0	broad.mit.edu	37	2	96457948	96457948	+	RNA	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:96457948C>T	ENST00000471661.1	+	0	116																											GTGACTGGTTCGTGGTTCTTC	0.562000													4	18					0	0	0.021553	0	0
ZNF471	57573	broad.mit.edu	37	19	57035697	57035697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:57035697G>T	ENST00000308031.5	+	5	394	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTCAGATTGGGAATCTATAT	0.333000													14	50					2.23348e-06	2.43896e-06	0.028581	1	0
KIAA1429	25962	broad.mit.edu	37	8	95538791	95538791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:95538791C>T	ENST00000297591.5	-	8	1756	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	561					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACAAGACTTCATAGAAATGG	0.403000													33	164					0	0	0.064281	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425081	204425081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:204425081G>A	ENST00000367187.3	-	12	2402	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCATGCTTGCGGCTCCCGGGC	0.612000													39	64					0	0	0.042209	0	0
MYOCD	93649	broad.mit.edu	37	17	12661501	12661501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:12661501C>T	ENST00000425538.1	+	12	2502	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P672S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P720S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	720					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTAACACAGCCTCCATCCTA	0.393000													11	49					0	0	0.010729	0	0
SMEK2	57223	broad.mit.edu	37	2	55831140	55831140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:55831140C>T	ENST00000272313.5	-	3	598	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N|SMEK2_ENST00000345102.5_Missense_Mutation_p.D91N	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	91	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGATCTCATCACAGCCAGCT	0.299000													16	65					0	0	0.055883	0	0
ACTG1	71	broad.mit.edu	37	17	79478246	79478246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79478246C>T	ENST00000575842.1	-	3	1196	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y			P63261	ACTG_HUMAN	actin, gamma 1	257					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGCCTCCGGACACCGGAACCG	0.577000													18	108					0	0	0.055883	0	0
SVEP1	79987	broad.mit.edu	37	9	113163273	113163273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:113163273T>C	ENST00000401783.2	-	40	10019	c.9683A>G	c.(9682-9684)gAg>gGg	p.E3228G	SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3228	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGGTGGCTCCCAGGTTCC	0.368000													14	29					0	0	0.024245	0	0
PCCB	5096	broad.mit.edu	37	3	135969356	135969356	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:135969356C>T	ENST00000471595.1	+	1	157	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000478469.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000466072.1_Silent_p.L47L|PCCB_ENST00000251654.4_Silent_p.L47L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	47	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCGGACCGCGCTGCTGGGAGG	0.667000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	0.010729	0	0
MYOM1	8736	broad.mit.edu	37	18	3116435	3116435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:3116435C>T	ENST00000400569.3	-	21	3530	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1066E			P52179	MYOM1_HUMAN	myomesin 1	1066	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGAGTCCGCCCGGAGTGGAC	0.547000													22	23					0	0	0.021523	0	0
AHNAK	79026	broad.mit.edu	37	11	62289123	62289123	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:62289123T>C	ENST00000378024.4	-	5	13040	c.12766A>G	c.(12766-12768)Aag>Gag	p.K4256E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4256					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTG	0.478000													61	327					0	0	0.048971	0	0
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:152665276G>T	ENST00000367255.5	-	74	12766	c.12165C>A	c.(12163-12165)gtC>gtA	p.V4055V	SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000341594.5_Silent_p.V3920V|SYNE1_ENST00000265368.4_Silent_p.V4055V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V4055V(2)|p.V3984V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.483000										HNSCC(10;0.0054)			42	39					3.61848e-18	4.79536e-18	0.030466	1	0
ZHX3	23051	broad.mit.edu	37	20	39832794	39832794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:39832794C>A	ENST00000309060.3	-	4	1178	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W|ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	255	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATCAGGGGCCCGTTGGCGGCA	0.582000													22	69					1.87028e-06	2.05055e-06	0.062417	1	0
LRP1B	53353	broad.mit.edu	37	2	141571366	141571366	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141571366A>G	ENST00000389484.3	-	32	6190	c.5219T>C	c.(5218-5220)aTa>aCa	p.I1740T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAGTCTATCGATAGACC	0.343000										TSP Lung(27;0.18)			7	58					0	0	0.047766	0	0
HIF3A	64344	broad.mit.edu	37	19	46815462	46815462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:46815462G>C	ENST00000339613.2	+	7	902	c.647G>C	c.(646-648)tGt>tCt	p.C216S	HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S|HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000377670.4_Missense_Mutation_p.C272S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCGGCTGTTCCGCCTAC	0.602000													57	98					0	0	0.048971	0	0
GRM3	2913	broad.mit.edu	37	7	86479718	86479718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:86479718C>T	ENST00000394720.2	+	4	1528	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	GRM3_ENST00000361669.2_Silent_p.S808S|GRM3_ENST00000546348.1_Silent_p.S400S|GRM3_ENST00000536043.1_Silent_p.S680S|GRM3_ENST00000439827.1_Missense_Mutation_p.P453S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTGTCAGCCTGAGTGGCT	0.488000													17	30					0	0	0.043863	0	0
SGSM3	27352	broad.mit.edu	37	22	40800432	40800432	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40800432C>T	ENST00000248929.9	+	5	528	c.339C>T	c.(337-339)gcC>gcT	p.A113A	SGSM3_ENST00000454798.2_Silent_p.A46A	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	113					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGGTGCTGGCCGGCATCCCAC	0.607000													23	12					0	0	0.018920	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190523	9190523	+	Missense_Mutation	SNP	G	G	C	rs147170997		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9190523G>C	ENST00000382496.5	-	11	1794	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	377	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGAACTTCTGAGCATCCTGC	0.577000													23	33					0	0	0.016522	0	0
ZNF398	57541	broad.mit.edu	37	7	148851047	148851047	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:148851047G>T	ENST00000475153.1	+	2	302	c.35G>T	c.(34-36)tGg>tTg	p.W12L	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	12					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACATCTGAATGGGACTCCGAG	0.493000													21	88					2.98393e-07	3.35232e-07	0.016522	1	0
C12orf40	283461	broad.mit.edu	37	12	40076610	40076610	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:40076610A>C	ENST00000324616.5	+	8	1038	c.884A>C	c.(883-885)aAt>aCt	p.N295T	C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	295										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTATCAGAGAATTGTGACTCT	0.318000													34	81					0	0	0.045705	0	0
ARID1A	8289	broad.mit.edu	37	1	27100151	27100151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:27100151C>A	ENST00000324856.7	+	16	4318	c.3947C>A	c.(3946-3948)tCg>tAg	p.S1316*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*|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		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)		AACCCAGACTCGGGGATGTAT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	38					9.39024e-22	1.27539e-21	0.036044	1	0
UNC79	57578	broad.mit.edu	37	14	94088414	94088414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:94088414C>G	ENST00000553484.1	+	31	5055	c.4901C>G	c.(4900-4902)tCa>tGa	p.S1634*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.S1612*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.S1435*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.S1612*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1612						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATCTATCCTCAGATTCAACC	0.468000													36	97					0	0	0.054565	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502529	90502529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:90502529C>T	ENST00000325643.5	+	4	3193	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGAGAAGCCCCCAACTTGGGA	0.602000													9	60					0	0	0.058154	0	0
BRIP1	83990	broad.mit.edu	37	17	59763514	59763514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763514C>A	ENST00000259008.2	-	19	2855	c.2588G>T	c.(2587-2589)tGg>tTg	p.W863L	BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	863					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCCGTACCCATTTAGAAAG	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					6	80					3.86212e-05	4.08666e-05	0.008291	1	0
ATP2B3	492	broad.mit.edu	37	X	152807330	152807330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:152807330C>A	ENST00000370186.1	+	4	936	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCAGCTCCTCCAGGTCCC	0.622000													61	27					3.07184e-27	4.25692e-27	0.048971	1	0
GFRA1	2674	broad.mit.edu	37	10	118029071	118029071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:118029071T>A	ENST00000439649.3	-	4	729	c.362A>T	c.(361-363)tAt>tTt	p.Y121F	GFRA1_ENST00000355422.6_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	121					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTGGTTCATATGGGGAATC	0.403000													8	49					0	0	0.047766	0	0
HUWE1	10075	broad.mit.edu	37	X	53672318	53672318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:53672318C>G	ENST00000342160.3	-	6	906	c.449G>C	c.(448-450)cGt>cCt	p.R150P	HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P|HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	150					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCCAGACGAGTGATGTA	0.458000													16	14					0	0	0.028581	0	0
BRD8	10902	broad.mit.edu	37	5	137476488	137476488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:137476488A>G	ENST00000254900.5	-	26	3892	c.3521T>C	c.(3520-3522)cTg>cCg	p.L1174P		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1174	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGAACATCAGCATCAGGTC	0.483000													60	255					0	0	0.048971	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441774	100441774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:100441774C>A	ENST00000279907.7	-	18	4131	c.3919G>T	c.(3919-3921)Gca>Tca	p.A1307S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTACTGTTGCAACAGTTTCA	0.279000													11	15					1.58986e-06	1.75013e-06	0.008291	1	0
USP17L2	377630	broad.mit.edu	37	8	11994697	11994697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:11994697C>A	ENST00000333796.3	-	1	1889	c.1573G>T	c.(1573-1575)Gct>Tct	p.A525S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	525					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACAAGCAGAGCCCTCTTGCTG	0.577000													12	42					1.05317e-09	1.26659e-09	0.020292	1	0
CFH	3075	broad.mit.edu	37	1	196643062	196643062	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:196643062G>T	ENST00000367429.4	+	3	560	c.320G>T	c.(319-321)gGt>gTt	p.G107V	CFH_ENST00000439155.2_Missense_Mutation_p.G107V|CFH_ENST00000359637.2_Missense_Mutation_p.G107V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	107	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGAATATGGTGTAAAAGCT	0.333000													20	127					1.22574e-08	1.42394e-08	0.014323	1	0
OR52N5	390075	broad.mit.edu	37	11	5799295	5799295	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5799295G>A	ENST00000317093.2	-	1	602	c.570C>T	c.(568-570)caC>caT	p.H190H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTACAGACATGTGGTCGCAGT	0.423000													4	65					0	0	0.009096	0	0
MMEL1	79258	broad.mit.edu	37	1	2540804	2540804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:2540804G>A	ENST00000288709.6	-	6	722	c.482C>T	c.(481-483)aCg>aTg	p.T161M	MMEL1_ENST00000378412.3_Missense_Mutation_p.T170M|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	170					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGGTACAGCGTCCTGGCCTT	0.687000													6	5					0	0	0.038147	0	0
FBXL13	222235	broad.mit.edu	37	7	102604000	102604000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:102604000G>T	ENST00000393772.2	-	8	1130	c.704C>A	c.(703-705)cCc>cAc	p.P235H	FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	235										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAAAGTTTTGGGTCGGAGAAG	0.328000													20	55					3.62473e-10	4.39801e-10	0.062417	1	0
DOCK1	1793	broad.mit.edu	37	10	129183096	129183096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:129183096G>C	ENST00000280333.6	+	38	3896	c.3787G>C	c.(3787-3789)Ggg>Cgg	p.G1263R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1263	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGCGGGACGGGTACCAGGC	0.562000													13	71					0	0	0.020292	0	0
OR10A7	121364	broad.mit.edu	37	12	55615024	55615024	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:55615024T>C	ENST00000326258.1	+	1	216	c.216T>C	c.(214-216)tgT>tgC	p.C72C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGAAGTATGTTTCACCTTGG	0.408000													50	171					0	0	0.048971	0	0
ESPL1	9700	broad.mit.edu	37	12	53676136	53676136	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:53676136A>T	ENST00000257934.4	+	14	2799	c.2708A>T	c.(2707-2709)cAg>cTg	p.Q903L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	903					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCGTGTCCAGGTCCTGCAG	0.577000													43	90					0	0	0.033182	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504953	151504953	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:151504953C>A	ENST00000317605.4	+	1	1877	c.772C>A	c.(772-774)Cgg>Agg	p.R258R	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	258					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAAGACTCTGCGGGACCGCCA	0.627000													31	23					2.4375e-19	3.26195e-19	0.034045	1	0
LAMA5	3911	broad.mit.edu	37	20	60908211	60908211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:60908211G>A	ENST00000252999.3	-	26	3283	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1073	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGCCGGGGCAGGCTG	0.701000													8	6					0	0	0.038147	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541965	101541965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:101541965C>T	ENST00000520311.1	-	3	900	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ANKRD46_ENST00000520552.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	33						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCCACTTTCCAAAAGCCGC	0.453000													14	90					0	0	0.020292	0	0
NSD1	64324	broad.mit.edu	37	5	176684042	176684042	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176684042G>C	ENST00000439151.2	+	13	4901	c.4856G>C	c.(4855-4857)tGt>tCt	p.C1619S	NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1619					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATGAAGAGTGTGTCCAGAAG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			39	50					0	0	0.027894	0	0
LRFN5	145581	broad.mit.edu	37	14	42361015	42361015	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:42361015A>G	ENST00000298119.4	+	4	3137	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	650						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTGGCACAAAGCCAAGTAC	0.478000										HNSCC(30;0.082)			12	26					0	0	0.010729	0	0
TFIP11	24144	broad.mit.edu	37	22	26894935	26894935	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:26894935T>A	ENST00000407690.1	-	10	1619	c.1336A>T	c.(1336-1338)Act>Tct	p.T446S	TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	446					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCCATAAGTGCAGTCCTGA	0.557000													106	63					0	0	0.048971	0	0
ABCA12	26154	broad.mit.edu	37	2	215880315	215880315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:215880315T>A	ENST00000272895.7	-	15	2074	c.1855A>T	c.(1855-1857)Aaa>Taa	p.K619*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	619					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGAATTCTTTCATTGCATCT	0.403000													8	25					0	0	0.038147	0	0
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443000													6	69					0	0	0.021553	0	0
MYH4	4622	broad.mit.edu	37	17	10362566	10362566	+	Splice_Site	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:10362566A>T	ENST00000255381.2	-	15	1698		c.e15+1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGTCATATGAACCTTCTCGAT	0.473000													15	51					0	0	0.024245	0	0
DENND4A	10260	broad.mit.edu	37	15	65959832	65959832	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65959832T>C	ENST00000443035.3	-	29	5408	c.5193A>G	c.(5191-5193)ttA>ttG	p.L1731L	DENND4A_ENST00000431932.2_Silent_p.L1688L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAATCCAGGTAAGTTACTGG	0.368000													9	47					0	0	0.008291	0	0
TRRAP	8295	broad.mit.edu	37	7	98609784	98609784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:98609784G>T	ENST00000359863.4	+	72	11595	c.11386G>T	c.(11386-11388)Gcc>Tcc	p.A3796S	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3796	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCTCGGCCGCCGGGCAGCC	0.582000													16	23					1.99824e-07	2.25421e-07	0.033300	1	0
NSD1	64324	broad.mit.edu	37	5	176637776	176637776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176637776C>A	ENST00000439151.2	+	5	2421	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	792					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATAAAGTGCAAACACAAAG	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	38					0.000673444	0.000693774	0.008291	1	0
ZNF415	55786	broad.mit.edu	37	19	53612056	53612056	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:53612056G>A	ENST00000455735.2	-	7	1706	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000500065.4_Silent_p.C414C|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000448501.1_Silent_p.C462C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CACATTCATTGCATTTGTAAG	0.403000													23	41					0	0	0.016522	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588692	140588692	+	Missense_Mutation	SNP	C	C	A	rs145009914		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:140588692C>A	ENST00000239450.2	+	1	402	c.213C>A	c.(211-213)aaC>aaA	p.N71K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		71	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAACAAAGAGTGTT	0.522000													31	62					2.08457e-15	2.70222e-15	0.045705	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967322	142967322	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:142967322T>A	ENST00000370494.1	+	1	150	c.120T>A	c.(118-120)gcT>gcA	p.A40A		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	40							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTGCTGGGGAATCAA	0.473000													53	35					0	0	0.048971	0	0
GAREM	64762	broad.mit.edu	37	18	29867752	29867752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:29867752G>A	ENST00000399218.4	-	4	863	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	GAREM_ENST00000269209.6_Missense_Mutation_p.R270C|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.R270C(1)									AACTTATAGCGGTGCCCCTCA	0.527000													16	67					0	0	0.028581	0	0
FER1L6	654463	broad.mit.edu	37	8	125061872	125061872	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:125061872A>G	ENST00000522917.1	+	22	2955	c.2749A>G	c.(2749-2751)Aca>Gca	p.T917A	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	917	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGGGTGCCACAGTGGCTGC	0.473000													14	49					0	0	0.016723	0	0
CDH19	28513	broad.mit.edu	37	18	64202289	64202289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:64202289T>C	ENST00000262150.2	-	8	1562	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	CDH19_ENST00000540086.1_Missense_Mutation_p.T424A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAGTTACTTGTAGTGATTGTA	0.328000													4	33					0	0	0.009096	0	0
WDR72	256764	broad.mit.edu	37	15	54003099	54003099	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:54003099G>T	ENST00000396328.1	-	9	1148	c.909C>A	c.(907-909)acC>acA	p.T303T	WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000559418.1_Silent_p.T315T|WDR72_ENST00000360509.5_Silent_p.T303T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	303										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGGATAAATGGTCTCTTTAA	0.383000													9	49					3.07112e-06	3.34596e-06	0.010729	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2																						ACCAGCGGCTTGTAGTACACA	0.627000													3	17					0	0	0.004672	0	0
ADSL	158	broad.mit.edu	37	22	40757500	40757500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:40757500G>T	ENST00000216194.7	+	9	927	c.871G>T	c.(871-873)Gcg>Tcg	p.A291S	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291S|ADSL_ENST00000454266.2_Missense_Mutation_p.A305S	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGGCTCAAGTGCGATGCCATA	0.522000													17	99					1.01871e-10	1.25105e-10	0.049695	1	0
DNAH7	56171	broad.mit.edu	37	2	196834805	196834805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:196834805C>T	ENST00000312428.6	-	17	2172	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	691	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCACAAACCGTTCACACCG	0.323000													19	54					0	0	0.014323	0	0
KLHL40	131377	broad.mit.edu	37	3	42727527	42727527	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:42727527C>T	ENST00000287777.4	+	1	517	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_152393.2	NP_689606.2			kelch-like family member 40																		TCTTCCGTCTCGGCCTCCTGC	0.652000													52	50					0	0	0.048971	0	0
SLIT3	6586	broad.mit.edu	37	5	168135107	168135107	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:168135107T>G	ENST00000519560.1	-	26	3139		c.e26-2		CTC-558O2.1_ENST00000522615.1_RNA|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.P913P|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGGCCCTGGGCAGCAAA	0.612000													5	41					0	0	0.021553	0	0
NLRP12	91662	broad.mit.edu	37	19	54313980	54313980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:54313980G>T	ENST00000324134.6	-	3	1101	c.933C>A	c.(931-933)tgC>tgA	p.C311*	NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	311	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCAGAGGCACCAGGGTC	0.567000													14	46					2.32078e-09	2.75347e-09	0.024245	1	0
WDR90	197335	broad.mit.edu	37	16	701826	701826	+	Splice_Site	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:701826G>T	ENST00000549091.1	+	9	932		c.e9-1		WDR90_ENST00000293879.4_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCCCCAGCAGTCCGGCCGGG	0.687000													20	49					7.41877e-09	8.69145e-09	0.012319	1	0
COL4A1	1282	broad.mit.edu	37	13	110833680	110833680	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr13:110833680A>G	ENST00000375820.4	-	29	2273	c.2152T>C	c.(2152-2154)Ttt>Ctt	p.F718L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	718	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCATTAAATCCCGGGCGA	0.502000													7	45					0	0	0.047766	0	0
NCR2	9436	broad.mit.edu	37	6	41318574	41318574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:41318574G>C	ENST00000373089.5	+	5	891	c.803G>C	c.(802-804)aGc>aCc	p.S268T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	268					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					actaagataagcgatgatgat	0.408000													16	34					0	0	0.024245	0	0
PTPRB	5787	broad.mit.edu	37	12	70954538	70954538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:70954538C>T	ENST00000334414.6	-	17	4389	c.4345G>A	c.(4345-4347)Ggc>Agc	p.G1449S	PTPRB_ENST00000261266.5_Missense_Mutation_p.G1231S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1231	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAACAAGGCCTTGAAACCGC	0.493000													15	47					0	0	0.020292	0	0
KLHL2	11275	broad.mit.edu	37	4	166232680	166232680	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:166232680T>C	ENST00000226725.6	+	11	1561	c.1302T>C	c.(1300-1302)aaT>aaC	p.N434N	KLHL2_ENST00000421009.2_Silent_p.N337N|KLHL2_ENST00000506761.1_Silent_p.N268N|KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	434					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTCCCATGAATACAAGGAGGA	0.418000													29	155					0	0	0.050027	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521053	33521053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:33521053C>A	ENST00000297307.5	-	1	359	c.274G>T	c.(274-276)Gac>Tac	p.D92Y		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	92	DUF6 1.					integral to membrane											AGAAGGGGGTCGCCACGCAGT	0.582000													88	120					9.24773e-40	1.28824e-39	0.048971	1	0
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	rs139271211		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:248059405G>A	ENST00000537741.1	+	3	774	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OR2W3_ENST00000360358.3_Missense_Mutation_p.E173K			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657000													41	76					0	0	0.025465	0	0
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:59112625C>A	ENST00000395153.3	+	4	1320	c.1173C>A	c.(1171-1173)gcC>gcA	p.A391A	DACT1_ENST00000335867.4_Silent_p.A428A|DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000395151.3_Silent_p.A147A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597000													7	46					5.18039e-06	5.60042e-06	0.038147	1	0
EEA1	8411	broad.mit.edu	37	12	93221688	93221688	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:93221688C>A	ENST00000322349.8	-	12	1668	c.1404_splice	c.e12+1	p.Q468_splice		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	468	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTAGCTTACCTGCTCTTCTA	0.348000													43	129					1.00953e-15	1.31474e-15	0.045515	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113634611	113634611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:113634611C>T	ENST00000358160.4	+	10	1508	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CATATCAGTGCTGACAGAATG	0.338000													11	40					0	0	0.008291	0	0
ABCC2	1244	broad.mit.edu	37	10	101591889	101591889	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:101591889G>A	ENST00000370449.4	+	23	3371		c.e23+1			NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTGCCGGCGTAAGTATCTC	0.433000													10	63					0	0	0.008291	0	0
ZNF432	9668	broad.mit.edu	37	19	52537631	52537631	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:52537631C>A	ENST00000594154.1	-	5	1513	c.1301G>T	c.(1300-1302)tGt>tTt	p.C434F	ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F			O94892	ZN432_HUMAN	zinc finger protein 432	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACCTTTTCCACATTCACTACA	0.408000													16	71					6.31663e-08	7.18966e-08	0.024245	1	0
MMP13	4322	broad.mit.edu	37	11	102825316	102825316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:102825316C>G	ENST00000260302.3	-	3	410	c.382G>C	c.(382-384)Gat>Cat	p.D128H	MMP13_ENST00000340273.4_Missense_Mutation_p.D128H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	128					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGAGTCATATCAGGGGTGTAA	0.348000													12	79					0	0	0.033300	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:118556735T>C	ENST00000360388.4	+	3	614	c.413T>C	c.(412-414)aTa>aCa	p.I138T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433000													23	46					0	0	0.014323	0	0
ALG13	79868	broad.mit.edu	37	X	110951259	110951259	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:110951259C>G	ENST00000394780.3	+	4	400	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	130					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCACAGGGTCCTGACTTGTCC	0.512000													7	7					0	0	0.029380	0	0
LHFP	10186	broad.mit.edu	37	13	39952615	39952615	+	Missense_Mutation	SNP	C	C	T	rs142526688	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr13:39952615C>T	ENST00000379589.3	-	3	896	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	145						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTTCCTCACTGTCCCAGCC	0.502000			T	HMGA2	lipoma								10	47					0	0	0.020292	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537198	5537198	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:5537198T>A	ENST00000380184.1	-	1	737	c.474A>T	c.(472-474)aaA>aaT	p.K158N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGTATGCACTTTGGGTGCAT	0.507000													28	49					0	0	0.027356	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065526	55065526	+	RNA	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:55065526C>A	ENST00000526016.1	-	0	182					NR_038174.2																						GCAATGGAAGCCATGTTCTTC	0.463000													10	14					1.33987e-11	1.67484e-11	0.008291	1	0
SEC31A	22872	broad.mit.edu	37	4	83748592	83748592	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:83748592C>G	ENST00000432794.1	-	25	3423	c.3260G>C	c.(3259-3261)gGc>gCc	p.G1087A	SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000395310.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1074	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGGTGGCATGCCTGTTTGACC	0.502000													30	147					0	0	0.041601	0	0
SPDL1	54908	broad.mit.edu	37	5	169015579	169015579	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:169015579G>C	ENST00000265295.4	+	2	438	c.159_splice	c.e2+1	p.E53_splice	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CCATGACTGAGGTAGGACTCT	0.363000													9	38					0	0	0.008291	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581990	84581990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:84581990C>A	ENST00000286744.5	+	16	2071	c.1847C>A	c.(1846-1848)aCc>aAc	p.T616N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	616	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGCTGCCCACCGAACGGCCC	0.617000													10	38					7.48243e-07	8.28095e-07	0.006214	1	0
L3MBTL4	91133	broad.mit.edu	37	18	5956275	5956275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:5956275G>A	ENST00000284898.6	-	20	2016	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y|RP11-793A3.1_ENST00000577704.1_RNA	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	606	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTGGGAATGCCTGAACATC	0.498000													48	184					0	0	0.048971	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856508	93856508	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:93856508G>T	ENST00000513200.3	-	4	487	c.415C>A	c.(415-417)Cat>Aat	p.H139N	KIAA0825_ENST00000329378.7_Missense_Mutation_p.H139N|KIAA0825_ENST00000427991.2_Missense_Mutation_p.H139N|KIAA0825_ENST00000312498.7_Missense_Mutation_p.H139N	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	139										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAGAGGAAATGGAAAGATGTT	0.413000													4	37					0.00024832	0.000259439	0.009096	1	0
CHRM2	1129	broad.mit.edu	37	7	136700500	136700500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:136700500G>C	ENST00000445907.2	+	3	1416	c.888G>C	c.(886-888)atG>atC	p.M296I	CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	296					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTCTAATATGAGAGATGATG	0.478000													9	67					0	0	0.010729	0	0
CELSR1	9620	broad.mit.edu	37	22	46806456	46806456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:46806456G>A	ENST00000262738.3	-	7	4771	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1591	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATCCAGGGACCTGGGTAG	0.642000													32	26					0	0	0.019004	0	0
BRIP1	83990	broad.mit.edu	37	17	59763502	59763502	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:59763502T>A	ENST00000259008.2	-	19	2867	c.2600A>T	c.(2599-2601)cAg>cTg	p.Q867L	BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	867					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTGCTGAATCTGCTGCCGTAC	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					9	83					0	0	0.016723	0	0
NSD1	64324	broad.mit.edu	37	5	176721512	176721512	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:176721512C>A	ENST00000439151.2	+	23	7188	c.7143C>A	c.(7141-7143)ccC>ccA	p.P2381P	NSD1_ENST00000354179.4_Silent_p.P2112P|NSD1_ENST00000361032.4_Silent_p.P2278P|NSD1_ENST00000347982.4_Silent_p.P2112P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2381	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTCAGTTCCCACTGGCCTGA	0.562000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	63					2.31682e-05	2.47599e-05	0.024245	1	0
COL5A1	1289	broad.mit.edu	37	9	137704317	137704317	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:137704317A>G	ENST00000371817.3	+	47	4127	c.3713A>G	c.(3712-3714)gAg>gGg	p.E1238G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1238	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCAGGCGAGAAGGGTGAG	0.527000													6	40					0	0	0.038147	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673889	20673889	+	Missense_Mutation	SNP	C	C	T	rs151244472	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:20673889C>T	ENST00000525748.1	+	15	2398	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	709					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGCTCTTACCGCTATCCTAA	0.488000													18	107					0	0	0.043863	0	0
ACSL4	2182	broad.mit.edu	37	X	108904779	108904779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:108904779T>C	ENST00000340800.2	-	15	2305	c.1801A>G	c.(1801-1803)Atc>Gtc	p.I601V	ACSL4_ENST00000469796.2_Missense_Mutation_p.I601V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	601					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AAAGCACAGATGTTGTCAATA	0.333000													22	19					0	0	0.016522	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369912	20369912	+	RNA	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:20369912C>T	ENST00000593655.1	-	0	199																											AGGCGGCTGACATTGATACCA	0.413000													15	26					0	0	0.020292	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80914579	80914579	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:80914579C>A	ENST00000576599.1	-	11	1414	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.V333L			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	333							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACCAGCTTCACGCAGATGACG	0.652000													3	3					0.00909568	0.00926106	0.009096	1	0
ABCA1	19	broad.mit.edu	37	9	107547893	107547893	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:107547893T>C	ENST00000374736.3	-	49	6823	c.6429A>G	c.(6427-6429)gtA>gtG	p.V2143V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2143	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCTATTCGTACAACTATTG	0.428000													11	63					0	0	0.016723	0	0
EPHA2	1969	broad.mit.edu	37	1	16477390	16477390	+	Splice_Site	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:16477390C>G	ENST00000358432.5	-	2	308		c.e2+1		EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGCTTACATACCCCTTTGCCA	0.617000													37	74					0	0	0.045515	0	0
SBK1	388228	broad.mit.edu	37	16	28331653	28331653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:28331653C>T	ENST00000341901.4	+	4	1475	c.686C>T	c.(685-687)gCg>gTg	p.A229V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	229	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GACGGGCTGGCGGTGGACACG	0.736000													8	19					0	0	0.047766	0	0
ASPM	259266	broad.mit.edu	37	1	197091420	197091420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:197091420C>G	ENST00000367409.4	-	15	3866	c.3610G>C	c.(3610-3612)Gag>Cag	p.E1204Q	ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1204	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATAGCTCTGAAGTATTT	0.363000													18	45					0	0	0.038395	0	0
HEPH	9843	broad.mit.edu	37	X	65480093	65480093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:65480093T>C	ENST00000519389.1	+	19	3529	c.3350T>C	c.(3349-3351)tTt>tCt	p.F1117S	HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S|HEPH_ENST00000336279.5_Missense_Mutation_p.F796S|HEPH_ENST00000419594.1_Missense_Mutation_p.F874S|HEPH_ENST00000343002.2_Missense_Mutation_p.F1063S			Q9BQS7	HEPH_HUMAN	hephaestin	1063					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.F1063C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCACTGTTTTTTCTCGAACA	0.473000													17	12					0	0	0.028581	0	0
SLC7A14	57709	broad.mit.edu	37	3	170185021	170185021	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:170185021T>C	ENST00000231706.4	-	8	2453	c.2138A>G	c.(2137-2139)gAg>gGg	p.E713G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	713						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTCTCGCCCTCTGTGGCGTA	0.572000													24	48					0	0	0.021523	0	0
ANK1	286	broad.mit.edu	37	8	41572572	41572572	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:41572572G>A	ENST00000396942.1	-	15	1706	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	ANK1_ENST00000396945.1_Silent_p.H541H|ANK1_ENST00000347528.4_Silent_p.H541H|ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	541	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.H541H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCGCCACGTGCAGAGGGG	0.627000													24	67					0	0	0.018920	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													5	46					0	0	0.029380	0	0
DRD3	1814	broad.mit.edu	37	3	113866346	113866346	+	Missense_Mutation	SNP	G	G	A	rs141573183		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:113866346G>A	ENST00000383673.2	-	4	872	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	DRD3_ENST00000467632.1_Missense_Mutation_p.R148W|DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000460779.1_Missense_Mutation_p.R148W	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	148					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562000													4	69					0	0	0.014758	0	0
FAM208B	54906	broad.mit.edu	37	10	5789010	5789010	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:5789010C>G	ENST00000328090.5	+	15	4251	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1209																	GTGGACTCATCATCAGCCTCT	0.473000													19	69					0	0	0.055883	0	0
OR5B3	441608	broad.mit.edu	37	11	58170004	58170004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:58170004C>G	ENST00000309403.2	-	1	878	c.879G>C	c.(877-879)aaG>aaC	p.K293N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCACTTCCTTGTTCCTCA	0.438000													6	94					0	0	0.013537	0	0
COL5A2	1290	broad.mit.edu	37	2	189962019	189962019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:189962019C>T	ENST00000374866.3	-	6	714	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	147					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTTTGGCCCTCGCTCTCC	0.443000													8	55					0	0	0.006214	0	0
ZNF862	643641	broad.mit.edu	37	7	149545456	149545456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:149545456G>A	ENST00000223210.4	+	4	1119	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAATCACTGATGGCATCCA	0.403000													3	14					0	0	0.009096	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954373	75954373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:75954373G>T	ENST00000274364.6	+	21	2707	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAACTAGAGGTTGCACGATT	0.448000													37	45					2.19358e-23	2.99611e-23	0.023175	1	0
PARD3	56288	broad.mit.edu	37	10	34690830	34690830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:34690830C>T	ENST00000374789.3	-	6	1055	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTATCCTCTTCTGTCCCATCC	0.428000													58	119					0	0	0.048971	0	0
NLRC3	197358	broad.mit.edu	37	16	3602217	3602217	+	RNA	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:3602217T>C	ENST00000301749.7	-	0	2735				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGACTCCTGTTCTGCTTCAA	0.532000													35	46					0	0	0.021022	0	0
CRTC3	64784	broad.mit.edu	37	15	91083350	91083350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:91083350G>A	ENST00000420329.2	+	2	359	c.212G>A	c.(211-213)aGc>aAc	p.S71N	CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N|CRTC3_ENST00000268184.6_Missense_Mutation_p.S71N|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	71	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCTGCGGAGCAGTGCGTCA	0.413000			T	MAML2	salivary gland mucoepidermoid								29	40					0	0	0.054565	0	0
PTP4A3	11156	broad.mit.edu	37	8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:142437153G>T	ENST00000520105.1	+	4	1256	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682000													27	147					8.53417e-09	9.95654e-09	0.054565	1	0
SGMS2	166929	broad.mit.edu	37	4	108831579	108831579	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:108831579A>T	ENST00000394684.4	+	7	1525	c.968A>T	c.(967-969)aAa>aTa	p.K323I	SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TTTTTTGAGAAAAATGTACAA	0.398000													29	30					0	0	0.037714	0	0
TCTN1	79600	broad.mit.edu	37	12	111078896	111078896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:111078896G>T	ENST00000551590.1	+	9	1202	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V			Q2MV58	TECT1_HUMAN	tectonic family member 1	349					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTCGTTCTGGGGACAGTTAGC	0.393000													47	101					2.52991e-16	3.3257e-16	0.048971	1	0
CC2D2A	57545	broad.mit.edu	37	4	15556795	15556795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:15556795A>G	ENST00000424120.1	+	20	2841	c.2587A>G	c.(2587-2589)Aat>Gat	p.N863D	CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000503292.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	863					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTCGACCCAAATGACCCCAA	0.463000													10	27					0	0	0.008291	0	0
LILRB5	10990	broad.mit.edu	37	19	54761048	54761048	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:54761048G>A	ENST00000450632.1	-	1	86	c.9C>T	c.(7-9)ctC>ctT	p.L3L	LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000316219.5_Silent_p.L3L|LILRB5_ENST00000345866.6_Silent_p.L3L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	3					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGAGAGGGTGAGGGTCATGG	0.587000													9	44					0	0	0.006214	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820232	50820232	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:50820232C>T	ENST00000374115.3	+	1	1886	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	482					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTTCCGAGCGCGATGTGCTGC	0.667000													40	42					0	0	0.027894	0	0
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Missense_Mutation	SNP	C	C	G	rs151231252		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:198950188C>G	ENST00000428675.1	+	2	2345	c.1947C>G	c.(1945-1947)atC>atG	p.I649M	PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	649	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423000													5	45					0	0	0.014758	0	0
JDP2	122953	broad.mit.edu	37	14	75936093	75936093	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:75936093G>A	ENST00000435893.2	+	4	680	c.407G>A	c.(406-408)cGc>cAc	p.R136H	JDP2_ENST00000419727.2_Missense_Mutation_p.R136H|JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000267569.5_Missense_Mutation_p.R147H	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	136						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		AACCGACACCGCCCCACCTGC	0.607000													17	40					0	0	0.033300	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559422	44559422	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:44559422C>T	ENST00000332567.4	-	1	2566	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	738					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGGCCATCAGCGGGGCCA	0.562000													21	127					0	0	0.016522	0	0
GPAA1	8733	broad.mit.edu	37	8	145140516	145140516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:145140516C>A	ENST00000355091.4	+	11	1613	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	498					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGATGGCACTGAAGCTGGT	0.597000													30	97					4.74835e-14	6.07096e-14	0.045705	1	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:117013751C>T	ENST00000306985.4	+	2	158	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.P2S	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	2					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627000													33	29					0	0	0.054565	0	0
GJA8	2703	broad.mit.edu	37	1	147380527	147380527	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:147380527A>T	ENST00000240986.4	+	2	498	c.445A>T	c.(445-447)Agg>Tgg	p.R149W	GJA8_ENST00000369235.1_Missense_Mutation_p.R149W	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	149					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTGCTGAGGACCTACAT	0.607000													20	115					0	0	0.043863	0	0
ENPP3	5169	broad.mit.edu	37	6	132039838	132039838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:132039838G>A	ENST00000414305.1	+	17	1767	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E|ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	480	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATTGTGGAGGAGGCAACCAT	0.294000													25	67					0	0	0.034045	0	0
SEMA5A	9037	broad.mit.edu	37	5	9136622	9136622	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:9136622C>A	ENST00000382496.5	-	13	2258	c.1593G>T	c.(1591-1593)gcG>gcT	p.A531A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	531					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACCGGACACGCAGAGATGC	0.587000													4	27					0.00024832	0.000259439	0.009096	1	0
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:113256689C>A	ENST00000297405.5	-	65	10580	c.10336G>T	c.(10336-10338)Ggt>Tgt	p.G3446C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	75					3.41278e-10	4.15469e-10	0.033300	1	0
ASXL3	80816	broad.mit.edu	37	18	31323155	31323155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:31323155C>G	ENST00000269197.5	+	12	3343	c.3343C>G	c.(3343-3345)Caa>Gaa	p.Q1115E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAAAGCATCAAGCTCGAGC	0.527000													4	23					0	0	0.009096	0	0
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:10401651G>A	ENST00000397077.1	-	12	2256	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577000													53	42					0	0	0.048971	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168941	42168941	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:42168941T>A	ENST00000444063.1	+	17	2186	c.2054T>A	c.(2053-2055)aTc>aAc	p.I685N	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I753N|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I685N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I690N|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I753N			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	685	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AAGTGGACCATCGATGAGGTG	0.612000													34	43					0	0	0.019004	0	0
KIRREL	55243	broad.mit.edu	37	1	158059256	158059256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:158059256C>G	ENST00000368172.1	+	5	463	c.451C>G	c.(451-453)Cct>Gct	p.P151A	KIRREL_ENST00000368173.3_Missense_Mutation_p.P353A|KIRREL_ENST00000359209.6_Intron|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000360089.4_Intron|KIRREL_ENST00000416935.2_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	348	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCAGGCCTCCTGGCTCCCC	0.617000													8	35					0	0	0.008291	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000439	16000439	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:16000439C>G	ENST00000221700.5	-	7	807	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	CYP4F2_ENST00000592328.1_Missense_Mutation_p.E238Q|CYP4F2_ENST00000011989.7_Missense_Mutation_p.E89Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	238					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAGGATCTCATGGTGTCTT	0.512000													9	131					0	0	0.028581	0	0
MYH14	79784	broad.mit.edu	37	19	50766677	50766677	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:50766677G>A	ENST00000440075.2	+	22	2741	c.2694_splice	c.e22+1	p.K898_splice	MYH14_ENST00000596571.1_Splice_Site_p.K857_splice|MYH14_ENST00000425460.1_Splice_Site_p.K865_splice|MYH14_ENST00000262269.8_Splice_Site_p.K898_splice|MYH14_ENST00000601313.1_Splice_Site_p.K898_splice|MYH14_ENST00000598205.1_Splice_Site_p.K865_splice|MYH14_ENST00000376970.2_Splice_Site_p.K890_splice			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	857					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGTTTACCAAGGTGAGGGCAG	0.622000													3	13					0	0	0.004672	0	0
SNRPN	6638	broad.mit.edu	37	15	25221556	25221556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:25221556C>T	ENST00000444203.2	+	4	1311	c.272C>T	c.(271-273)cCc>cTc	p.P91L	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNRPN_ENST00000400100.1_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCCACCCCCCAAAGATGTA	0.488000									Prader-Willi syndrome				12	51					0	0	0.016723	0	0
PCYT2	5833	broad.mit.edu	37	17	79865452	79865452	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:79865452T>C	ENST00000538936.2	-	6	623	c.515A>G	c.(514-516)gAg>gGg	p.E172G	PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G|PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	172	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTCTGCATACTCCCGGTACTC	0.667000													3	9					0	0	0.004672	0	0
PAAF1	80227	broad.mit.edu	37	11	73620473	73620473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:73620473G>A	ENST00000544909.1	+	5	822	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G188R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	188					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CGTTGATCGGGGGAGGAATGT	0.507000													12	85					0	0	0.024245	0	0
LAMA2	3908	broad.mit.edu	37	6	129674405	129674405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:129674405C>G	ENST00000421865.2	+	32	4669	c.4620C>G	c.(4618-4620)gaC>gaG	p.D1540E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1540	Laminin EGF-like 17.				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)		TGCCCTGTGACCCTGTCACAG	0.602000													23	50					0	0	0.018920	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734432	12734432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:12734432T>A	ENST00000380682.1	+	15	2360	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGCCCCCTGTGAGGCAGACT	0.532000													47	30					0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:141027836G>C	ENST00000389484.3	-	86	14193	c.13222C>G	c.(13222-13224)Ccc>Gcc	p.P4408A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403000										TSP Lung(27;0.18)			19	38					0	0	0.012319	0	0
C10orf76	79591	broad.mit.edu	37	10	103789339	103789339	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:103789339C>A	ENST00000311122.5	-	5	589	c.470G>T	c.(469-471)tGg>tTg	p.W157L	C10orf76_ENST00000370033.4_Intron			Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	0						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGATAGTGTCCAGGAACAGCT	0.438000													11	54					3.86212e-05	4.09619e-05	0.008291	1	0
LAMA2	3908	broad.mit.edu	37	6	129714275	129714275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:129714275G>T	ENST00000421865.2	+	37	5369	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1774	Domain II and I.				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)		GGATCTCCGGGAAAAACTGGC	0.448000													17	47					4.7546e-09	5.59365e-09	0.028581	1	0
TRPC5	7224	broad.mit.edu	37	X	111097062	111097062	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:111097062T>A	ENST00000262839.2	-	4	2091	c.1173A>T	c.(1171-1173)acA>acT	p.T391T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	391					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGAAGGTCTGTCCTGACAA	0.483000													46	28					0	0	0.048971	0	0
TMEM213	155006	broad.mit.edu	37	7	138487681	138487681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:138487681G>A	ENST00000442682.2	+	3	344	c.191G>A	c.(190-192)cGc>cAc	p.R64H	TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CGGTGCTGCCGCACAGGAGTG	0.627000													19	36					0	0	0.055883	0	0
NDST4	64579	broad.mit.edu	37	4	115998155	115998155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:115998155G>T	ENST00000264363.2	-	2	716	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	13						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348000													4	20					0.00909568	0.00926106	0.009096	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2408379	2408379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:2408379G>A	ENST00000332578.3	+	7	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	256	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTGGGTGGCCTACGTGGG	0.672000													17	21					0	0	0.012319	0	0
ATRX	546	broad.mit.edu	37	X	76907828	76907828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:76907828C>G	ENST00000373344.5	-	15	4547	c.4333G>C	c.(4333-4335)Gaa>Caa	p.E1445Q	ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1445	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	tcctcctcttcttcctcAGAA	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	21					0	0	0.055883	0	0
EIF2B3	8891	broad.mit.edu	37	1	45444037	45444037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:45444037C>T	ENST00000360403.2	-	3	370	c.244G>A	c.(244-246)Gct>Act	p.A82T	EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	82					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCATGTCAGCGTCATCAGGA	0.363000													62	106					0	0	0.048971	0	0
MMRN1	22915	broad.mit.edu	37	4	90856493	90856493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:90856493G>T	ENST00000394980.1	+	7	1981	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N			Q13201	MMRN1_HUMAN	multimerin 1	554					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAATATAAAGAAGCAGAGTT	0.383000													10	59					5.50884e-06	5.93259e-06	0.013537	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724486	7724486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:7724486G>T	ENST00000303635.7	+	9	2086	c.1879G>T	c.(1879-1881)Gtc>Ttc	p.V627F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCTCCCCGTCGAGCAGAA	0.652000			T	WWTR1	epitheliod hemangioendothelioma								79	81					2.27196e-54	3.18074e-54	0.048971	1	0
SYNE3	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	T	rs143391386		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:95922000G>T	ENST00000334258.5	-	5	865	c.851C>A	c.(850-852)gCg>gAg	p.A284E	SYNE3_ENST00000557275.1_Missense_Mutation_p.A284E|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284E|SYNE3_ENST00000554873.1_Missense_Mutation_p.A41E	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						AATGACACCCGCAGACTGCTC	0.567000													20	181					3.8784e-16	5.07455e-16	0.012319	1	0
FAM155A	728215	broad.mit.edu	37	13	108518775	108518775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr13:108518775C>A	ENST00000375915.2	-	1	308	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	57						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCGCAGAACCACAAGTGATC	0.602000													75	74					1.23106e-19	1.65719e-19	0.048971	1	0
SYBU	55638	broad.mit.edu	37	8	110587410	110587410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:110587410G>C	ENST00000399066.3	-	6	2435	c.1708C>G	c.(1708-1710)Ctc>Gtc	p.L570V	SYBU_ENST00000422135.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	573						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCTCATGAGGCGGTTTGCA	0.547000													12	69					0	0	0.010729	0	0
CACNG5	27091	broad.mit.edu	37	17	64881204	64881204	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:64881204C>T	ENST00000533854.1	+	6	912	c.675C>T	c.(673-675)tcC>tcT	p.S225S	CACNG5_ENST00000307139.3_Silent_p.S225S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	225				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTGCTCCGATTACTCAG	0.622000													13	35					0	0	0.016723	0	0
SDK1	221935	broad.mit.edu	37	7	4188976	4188976	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:4188976C>T	ENST00000404826.2	+	30	4645	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G	SDK1_ENST00000389531.3_Silent_p.G1502G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1502	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTCCCGGGCAGCGACGGGG	0.677000													10	22					0	0	0.008291	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699222	60699222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:60699222G>T	ENST00000005286.4	+	6	1234	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G360C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	360						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTGGGGGCGTAGCGGT	0.567000													27	131					1.68575e-08	1.93447e-08	0.034045	1	0
CYP4F3	4051	broad.mit.edu	37	19	15760804	15760804	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:15760804A>T	ENST00000221307.7	+	7	777	c.729A>T	c.(727-729)atA>atT	p.I243I	CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.I243I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	243					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCCTGTACATAGACTTCCTGT	0.562000													7	71					0	0	0.045705	0	0
MYH15	22989	broad.mit.edu	37	3	108100408	108100408	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:108100408T>G	ENST00000273353.3	-	42	5883		c.e42-2			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTGAACCTGAAAAACAGA	0.453000													58	98					0	0	0.048971	0	0
RLF	6018	broad.mit.edu	37	1	40705888	40705888	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:40705888G>C	ENST00000372771.4	+	8	5541	c.5514G>C	c.(5512-5514)gaG>gaC	p.E1838D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1838					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATTCATGAGAACCTGACTG	0.398000													15	85					0	0	0.028581	0	0
WDR55	54853	broad.mit.edu	37	5	140048308	140048308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:140048308G>T	ENST00000358337.5	+	4	729	c.492G>T	c.(490-492)atG>atT	p.M164I		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	164					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGGATATGAGGCAACATG	0.537000													9	38					0.0477658	0.0482831	0.047766	1	0
TMEM167A	153339	broad.mit.edu	37	5	82357723	82357723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:82357723C>T	ENST00000502346.1	-	3	293	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	41						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						CAAAATATACCCAACAATCTG	0.303000													9	40					0	0	0.008291	0	0
TRIM42	287015	broad.mit.edu	37	3	140409849	140409849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:140409849G>A	ENST00000286349.3	+	4	2091	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	634	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTCTTTTGAGATGGAATT	0.418000													19	78					0	0	0.012319	0	0
LRP1B	53353	broad.mit.edu	37	2	141128763	141128763	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:141128763A>G	ENST00000389484.3	-	70	11831	c.10860T>C	c.(10858-10860)gcT>gcC	p.A3620A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3620	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCAGCACAATCAT	0.303000										TSP Lung(27;0.18)			3	21					0	0	0.004672	0	0
CNTN6	27255	broad.mit.edu	37	3	1444056	1444056	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:1444056A>G	ENST00000446702.2	+	22	3499	c.2872A>G	c.(2872-2874)Aca>Gca	p.T958A	CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A|CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A			Q9UQ52	CNTN6_HUMAN	contactin 6	958	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAAACAATACATCAGCTGA	0.368000													19	21					0	0	0.043863	0	0
GLRB	2743	broad.mit.edu	37	4	158060002	158060002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:158060002G>T	ENST00000264428.4	+	7	922	c.652G>T	c.(652-654)Gga>Tga	p.G218*	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	218					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGGCAGTCAGGAGATCCTGT	0.284000													12	70					2.61681e-11	3.24207e-11	0.020292	1	0
TDG	6996	broad.mit.edu	37	12	104373699	104373699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:104373699G>T	ENST00000392872.3	+	3	491	c.257G>T	c.(256-258)gGc>gTc	p.G86V	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.G82V	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	86					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAATCTGGCAAGTCTGCA	0.338000								Base excision repair (BER), DNA glycosylases					14	79					1.52009e-12	1.91723e-12	0.024245	1	0
WWC1	23286	broad.mit.edu	37	5	167855056	167855056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:167855056G>T	ENST00000265293.4	+	12	2331	c.1829G>T	c.(1828-1830)gGg>gTg	p.G610V	WWC1_ENST00000521089.1_Missense_Mutation_p.G610V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	610					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGGCCCAGGGGTGTGGCCTG	0.542000													15	31					6.31663e-08	7.18966e-08	0.024245	1	0
DOCK4	9732	broad.mit.edu	37	7	111379256	111379256	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:111379256G>A	ENST00000428084.1	-	49	5438	c.5166C>T	c.(5164-5166)aaC>aaT	p.N1722N	DOCK4_ENST00000494651.2_Silent_p.N596N|DOCK4_ENST00000437633.1_Silent_p.N1713N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1713	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACAGGCAAGAGTTTTCTCGGG	0.483000													15	85					0	0	0.038395	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532025	84532025	+	RNA	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:84532025T>C	ENST00000527857.1	+	0	2047					NR_026851.1																						AGGTCCATGTTCCCATCTCCA	0.483000													8	39					0	0	0.047766	0	0
TCL6	27004	broad.mit.edu	37	14	96130030	96130030	+	RNA	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:96130030C>A	ENST00000467865.1	+	0	438				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GGACTTTAATCTTAAGTGGAC	0.423000			T	TRA@	T-ALL								15	27					2.61681e-11	3.24207e-11	0.020292	1	0
HTR1A	3350	broad.mit.edu	37	5	63256581	63256581	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:63256581C>T	ENST00000323865.3	-	1	1199	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATTTTTCCTCTCGAAAGAGG	0.617000													7	55					0	0	0.038147	0	0
RIPK2	8767	broad.mit.edu	37	8	90798848	90798848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:90798848G>A	ENST00000220751.4	+	9	1371	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	353					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAGCTCCATGAAAATAGTGG	0.318000													24	112					0	0	0.027356	0	0
KCTD3	51133	broad.mit.edu	37	1	215752341	215752341	+	Splice_Site	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:215752341A>G	ENST00000259154.4	+	7	691		c.e7-1			NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCTCTTTATAGGTATTCCTA	0.333000													4	28					0	0	0.014758	0	0
TECTA	7007	broad.mit.edu	37	11	120984288	120984288	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:120984288C>T	ENST00000392793.1	+	6	922	c.651C>T	c.(649-651)acC>acT	p.T217T	TECTA_ENST00000264037.2_Silent_p.T217T			O75443	TECTA_HUMAN	tectorin alpha	217	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACCTCACCAATTTCTTCA	0.468000													10	53					0	0	0.008291	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373000													5	36					0	0	0.014758	0	0
RIMS3	9783	broad.mit.edu	37	1	41101587	41101587	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:41101587C>A	ENST00000372684.3	-	4	829		c.e4+1		RIMS3_ENST00000372683.1_Splice_Site	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3						neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGCACGCACGTGCCGTCGG	0.667000													14	55					1.15088e-07	1.30464e-07	0.028581	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68675796	68675796	+	Missense_Mutation	SNP	G	G	A	rs138448914	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:68675796G>A	ENST00000255078.3	+	3	551	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	147					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTACAGGCGACTGAAAAAG	0.453000													44	57					0	0	0.045515	0	0
FAM208B	54906	broad.mit.edu	37	10	5790610	5790610	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:5790610G>A	ENST00000328090.5	+	15	5851	c.5226G>A	c.(5224-5226)aaG>aaA	p.K1742K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1742																	GTGAAACAAAGGAGCTATTGA	0.498000													13	40					0	0	0.013537	0	0
BEX4	56271	broad.mit.edu	37	X	102471104	102471104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:102471104C>A	ENST00000372695.5	+	3	258	c.23C>A	c.(22-24)gCg>gAg	p.A8E	BEX4_ENST00000372691.3_Missense_Mutation_p.A8E	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	8						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GAGGAACTAGCGGCAAACAAT	0.512000													20	21					7.21436e-19	9.57356e-19	0.049695	1	0
FER1L5	90342	broad.mit.edu	37	2	97370099	97370099	+	RNA	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:97370099G>A	ENST00000457909.1	+	0	5452							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						ATTCAGCTCCGGTGAGTGGCA	0.483000													58	120					0	0	0.048971	0	0
DHX8	1659	broad.mit.edu	37	17	41570954	41570954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:41570954G>A	ENST00000262415.3	+	7	1077	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	DHX8_ENST00000540306.1_Missense_Mutation_p.M335I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	335	S1 motif.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTGAGCATGAAGGTAGGTG	0.527000													15	70					0	0	0.020292	0	0
DCDC1	341019	broad.mit.edu	37	11	31327197	31327197	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:31327197C>A	ENST00000597505.1	-	4	718	c.719G>T	c.(718-720)gGa>gTa	p.G240V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G240V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	240	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAAGGGCTCTCCCGTTGAAAC	0.413000													31	69					6.05902e-23	8.23556e-23	0.017118	1	0
TRIM58	25893	broad.mit.edu	37	1	248028155	248028155	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:248028155T>A	ENST00000366481.3	+	3	713	c.665T>A	c.(664-666)cTg>cAg	p.L222Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular	zinc ion binding	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692000													7	22					0	0	0.029380	0	0
IPO7	10527	broad.mit.edu	37	11	9459832	9459832	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:9459832G>A	ENST00000379719.3	+	22	2837	c.2695_splice	c.e22+1	p.E899_splice		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	899	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		tgatgaAACCGGTAAGGGATT	0.428000													32	33					0	0	0.037714	0	0
CSNK2A1	1457	broad.mit.edu	37	20	489118	489118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:489118G>T	ENST00000217244.3	-	3	453	c.78C>A	c.(76-78)taC>taA	p.Y26*	CSNK2A1_ENST00000400217.1_Intron|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000460062.1_Intron	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.458000													33	29					1.59361e-14	2.04684e-14	0.027894	1	0
PCDHA2	56146	broad.mit.edu	37	5	140184653	140184653	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:140184653C>T	ENST00000520672.2	+	2	2503	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron																NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATATGGAACTTCAATCTTC	0.358000													6	8					0	0	0.047766	0	0
PDX1	3651	broad.mit.edu	37	13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr13:28498541G>C	ENST00000381033.4	+	2	674	c.555G>C	c.(553-555)ttG>ttC	p.L185F		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	185					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587000													5	71					0	0	0.021553	0	0
ITPR2	3709	broad.mit.edu	37	12	26818845	26818845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:26818845G>A	ENST00000381340.3	-	14	1965	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AAATTCACCTGTGCCAGTATG	0.343000													21	50					0	0	0.016522	0	0
GALNT14	79623	broad.mit.edu	37	2	31133837	31133837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:31133837C>G	ENST00000349752.5	-	15	2228	c.1589G>C	c.(1588-1590)gGc>gCc	p.G530A	GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	530	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATTTCCTTGCCGTTCTCGGT	0.542000													16	71					0	0	0.043863	0	0
ACAN	176	broad.mit.edu	37	15	89398229	89398229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:89398229C>A	ENST00000439576.2	+	12	2787	c.2413C>A	c.(2413-2415)Cca>Aca	p.P805T	ACAN_ENST00000561243.1_Missense_Mutation_p.P805T|ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	805					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAACCATTCCCCTC	0.602000													7	8					0.000157383	0.000165667	0.038147	1	0
ADSL	158	broad.mit.edu	37	22	40757501	40757501	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:40757501C>G	ENST00000216194.7	+	9	928	c.872C>G	c.(871-873)gCg>gGg	p.A291G	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.A291G|ADSL_ENST00000454266.2_Missense_Mutation_p.A305G	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.A291V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GGCTCAAGTGCGATGCCATAT	0.527000													18	98					0	0	0.055883	0	0
ABCA13	154664	broad.mit.edu	37	7	48312325	48312325	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:48312325T>A	ENST00000435803.1	+	17	3086	c.3062T>A	c.(3061-3063)cTt>cAt	p.L1021H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1021					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAGGTTCTTGGGGGAATT	0.338000													8	13					0	0	0.038147	0	0
PCDH10	57575	broad.mit.edu	37	4	134073285	134073285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:134073285G>T	ENST00000264360.4	+	1	2816	c.1990G>T	c.(1990-1992)Ggg>Tgg	p.G664W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	664	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCGACCATGGGCAGCCGCC	0.731000													5	35					0.000602214	0.000624519	0.014758	1	0
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:11918291G>A	ENST00000376468.3	-	2	465	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	123					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGCCACTGGAGGAGCTGAT	0.602000													23	32					0	0	0.018920	0	0
IFIH1	64135	broad.mit.edu	37	2	163134806	163134806	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:163134806C>A	ENST00000263642.2	-	9	2069	c.1674G>T	c.(1672-1674)atG>atT	p.M558I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	558					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GAATCCTTGTCATTATTTCTA	0.289000													5	38					1.23904e-05	1.32924e-05	0.014758	1	0
KRT34	3885	broad.mit.edu	37	17	39538432	39538432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:39538432G>T	ENST00000394001.1	-	1	223	c.193C>A	c.(193-195)Ccc>Acc	p.P65T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	65	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CAGCTGGGGGGCACGCAGGGC	0.622000													19	72					1.01871e-10	1.25105e-10	0.049695	1	0
SLC29A4	222962	broad.mit.edu	37	7	5342477	5342477	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:5342477C>T	ENST00000396872.2	+	11	1661	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	SLC29A4_ENST00000439491.2_Intron|SLC29A4_ENST00000297195.4_Silent_p.A500A|SLC29A4_ENST00000406453.3_Silent_p.A486A	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	500					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGGGGTCCGCCGTGGCCTACT	0.677000													3	3					0	0	0.004672	0	0
CDHR2	54825	broad.mit.edu	37	5	176005489	176005489	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:176005489G>A	ENST00000510636.1	+	16	1972	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	CDHR2_ENST00000506348.1_Silent_p.L566L|CDHR2_ENST00000261944.5_Silent_p.L566L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	566	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCGGGAACCTGTCCTCCTCCA	0.627000													4	23					0	0	0.014758	0	0
QSOX1	5768	broad.mit.edu	37	1	180159622	180159622	+	Missense_Mutation	SNP	C	C	T	rs143670617	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:180159622C>T	ENST00000367602.3	+	10	1269	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGTGAGCCGCATTTCCGGGG	0.557000													50	121					0	0	0.048971	0	0
LIN7A	8825	broad.mit.edu	37	12	81331469	81331469	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:81331469C>A	ENST00000552864.1	-	1	235	c.33G>T	c.(31-33)acG>acT	p.T11T		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCATGTCTGCCGTGGGAGCCG	0.637000													6	13					0.00198382	0.00204217	0.029380	1	0
KIF2B	84643	broad.mit.edu	37	17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:51900732C>T	ENST00000268919.4	+	1	494	c.338C>T	c.(337-339)aCg>aTg	p.T113M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTACCGCCACGAAATGGGTT	0.592000													19	92					0	0	0.043863	0	0
COL19A1	1310	broad.mit.edu	37	6	70778326	70778326	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:70778326G>T	ENST00000322773.4	+	15	1284	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G	COL19A1_ENST00000393344.1_Silent_p.G16G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	394	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTCCCTGGGGATACAAGGCC	0.418000													13	38					1.67942e-08	1.93447e-08	0.038395	1	0
TSR3	115939	broad.mit.edu	37	16	1400139	1400139	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:1400139C>A	ENST00000007390.2	-	4	729	c.623G>T	c.(622-624)tGc>tTc	p.C208F		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CGGGCTGCCGCAGGCCGCGTA	0.622000													17	18					1.5739e-10	1.92442e-10	0.028581	1	0
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:234367481G>A	ENST00000366618.3	+	3	747	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R132Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597000													23	138					0	0	0.014323	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4499579	4499579	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:4499579A>G	ENST00000301284.4	+	14	1731	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		556					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CCAAAGATCgaggcggtgcag	0.622000													8	3					0	0	0.038147	0	0
EDN3	1908	broad.mit.edu	37	20	57896161	57896161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:57896161C>T	ENST00000311585.7	+	3	825	c.455C>T	c.(454-456)tCa>tTa	p.S152L	EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000337938.2_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	152					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGCAGCTCTCACATCGGCCA	0.582000													33	77					0	0	0.054565	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919048	8919048	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:8919048G>T	ENST00000256707.3	-	19	2773	c.2592C>A	c.(2590-2592)gaC>gaA	p.D864E	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	864	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCATGGAACGTCTCCATTTG	0.398000													17	114					1.33834e-09	1.59461e-09	0.043863	1	0
FBXO18	84893	broad.mit.edu	37	10	5953002	5953002	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:5953002G>T	ENST00000379999.5	+	7	1379	c.1275G>T	c.(1273-1275)acG>acT	p.T425T	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Silent_p.T374T|FBXO18_ENST00000379994.1_Silent_p.T111T	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	374				K -> N (in Ref. 2; AAP97705).	DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCTCCACGGTGACCATGC	0.582000													17	96					1.33834e-09	1.59461e-09	0.043863	1	0
ZNF506	440515	broad.mit.edu	37	19	19905448	19905448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:19905448C>G	ENST00000443905.2	-	4	1395	c.1248G>C	c.(1246-1248)aaG>aaC	p.K416N	CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.K416N|ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TATGAATTTTCTTATGTTTAT	0.338000													28	29					0	0	0.030593	0	0
PCLO	27445	broad.mit.edu	37	7	82582945	82582945	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:82582945T>A	ENST00000423517.2	-	5	7661	c.7324A>T	c.(7324-7326)Aag>Tag	p.K2442*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.K2442*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2373	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTAACTTTTTTTTAGGA	0.498000													3	12					0	0	0.004672	0	0
MBD5	55777	broad.mit.edu	37	2	149226943	149226943	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:149226943A>T	ENST00000407073.1	+	9	2428	c.1431A>T	c.(1429-1431)gtA>gtT	p.V477V	MBD5_ENST00000404807.1_Silent_p.V477V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	477						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCACCTGTAGGACCCCAGG	0.502000													7	31					0	0	0.029380	0	0
OR52N4	390072	broad.mit.edu	37	11	5776293	5776293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:5776293C>G	ENST00000317254.3	+	1	371	c.323C>G	c.(322-324)aCc>aGc	p.T108S	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCACCCACACCTTCACAGGG	0.483000													18	72					0	0	0.043863	0	0
FAM184A	79632	broad.mit.edu	37	6	119341265	119341265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:119341265C>A	ENST00000338891.7	-	4	1653	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	404										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTTCTGATTCTAAATCTTTA	0.363000													13	35					9.05144e-12	1.1365e-11	0.016723	1	0
TRPM3	80036	broad.mit.edu	37	9	73150933	73150933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:73150933C>A	ENST00000377110.2	-	25	5303	c.5060G>T	c.(5059-5061)aGc>aTc	p.S1687I	TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1712						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGGACAGGCTGTCCCCTCG	0.522000													40	72					2.19489e-29	3.04242e-29	0.025465	1	0
FMO4	2329	broad.mit.edu	37	1	171310604	171310604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:171310604G>T	ENST00000367749.3	+	10	1633	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	435					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCCTACATGGATGATATCGC	0.473000													18	34					1.45105e-14	1.87232e-14	0.038395	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886180	88886180	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:88886180C>G	ENST00000319675.3	-	1	116	c.20G>C	c.(19-21)cGa>cCa	p.R7P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	7										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCGAGCAGTCGCGGTCTTTT	0.522000													14	34					0	0	0.020292	0	0
RGL1	23179	broad.mit.edu	37	1	183876207	183876207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:183876207C>T	ENST00000304685.3	+	15	2100	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	RGL1_ENST00000536277.1_Missense_Mutation_p.R510W|RGL1_ENST00000367531.1_Missense_Mutation_p.R547W|RGL1_ENST00000360851.3_Missense_Mutation_p.R512W|RGL1_ENST00000539189.1_Missense_Mutation_p.R483W	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	512	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCCCAAGCCTCGGAAGAGCAT	0.557000													7	8					0	0	0.047766	0	0
CEP112	201134	broad.mit.edu	37	17	64062993	64062993	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:64062993A>G	ENST00000392769.2	-	10	1076	c.858T>C	c.(856-858)atT>atC	p.I286I	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Silent_p.I286I|CEP112_ENST00000537949.1_Silent_p.I244I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	286						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCTTTCTAAAATCTGCAAAT	0.244000													7	13					0	0	0.029380	0	0
WDR78	79819	broad.mit.edu	37	1	67292591	67292591	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:67292591A>C	ENST00000371026.3	-	15	2306	c.2251T>G	c.(2251-2253)Tac>Gac	p.Y751D	WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCAACGTCGTAAACAACAGAA	0.398000													21	94					0	0	0.055883	0	0
CILP	8483	broad.mit.edu	37	15	65490300	65490300	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:65490300A>G	ENST00000261883.4	-	9	2490	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	775					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATCACGGAGATCACAACCCC	0.562000													54	87					0	0	0.048971	0	0
NPHS1	4868	broad.mit.edu	37	19	36340485	36340485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:36340485G>T	ENST00000378910.5	-	6	678	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGATGGGGGCCTCCAGT	0.587000													28	55					1.30988e-24	1.79787e-24	0.045705	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092097	30092097	+	RNA	SNP	C	C	T	rs718721	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:30092097C>T	ENST00000567636.1	+	0	472					NR_003558.1																						TATTCTATGACTCTATGAAAA	0.348000													3	10					0	0	0.004672	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:99757693C>A	ENST00000360039.4	-	4	1711	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557000													14	67					1.05317e-09	1.26561e-09	0.020292	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37419231	37419231	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:37419231T>G	ENST00000374660.1	+	3	366	c.267T>G	c.(265-267)taT>taG	p.Y89*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y89*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	145						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCTCCATTATGCTGTTTATA	0.433000													16	32					0	0	0.028581	0	0
PAPPA	5069	broad.mit.edu	37	9	119097340	119097340	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:119097340C>A	ENST00000328252.3	+	13	3967	c.3598C>A	c.(3598-3600)Cct>Act	p.P1200T	PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1200					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCTACAGCCCTGCCGAGCA	0.617000													9	54					0.00829132	0.00850392	0.008291	1	0
EGLN1	54583	broad.mit.edu	37	1	231556851	231556851	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:231556851T>G	ENST00000366641.3	-	1	3939	c.784A>C	c.(784-786)Aag>Cag	p.K262Q		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	262					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCGGGCTCCTTGCCCTCGATC	0.592000													58	66					0	0	0.048971	0	0
PIGK	10026	broad.mit.edu	37	1	77627356	77627356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:77627356C>A	ENST00000370812.3	-	7	648	c.625G>T	c.(625-627)Gca>Tca	p.A209S	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	209					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TACATGGATGCTCCTTGGCAA	0.358000													35	59					1.36161e-19	1.82417e-19	0.019004	1	0
SLC30A2	7780	broad.mit.edu	37	1	26370885	26370885	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:26370885G>T	ENST00000374276.3	-	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCAGTGAGCAGGTGTGCT	0.597000													5	17					5.9392e-07	6.59911e-07	0.021553	1	0
STXBP4	252983	broad.mit.edu	37	17	53158524	53158524	+	Missense_Mutation	SNP	G	G	A	rs35447433	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:53158524G>A	ENST00000376352.2	+	16	1676	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	490						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATCTGTTCGTGCCTTACTT	0.378000													7	14					0	0	0.029380	0	0
ZNF135	7694	broad.mit.edu	37	19	58579086	58579086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:58579086T>A	ENST00000506786.1	+	5	1662	c.1108T>A	c.(1108-1110)Tgt>Agt	p.C370S	ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S|ZNF135_ENST00000313434.5_Missense_Mutation_p.C412S|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCCTATGAGTGTGGTGAGTG	0.542000													18	25					0	0	0.033300	0	0
COL11A1	1301	broad.mit.edu	37	1	103405901	103405901	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:103405901A>T	ENST00000358392.2	-	43	3719	c.3402T>A	c.(3400-3402)ccT>ccA	p.P1134P	COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000512756.1_Silent_p.P1006P|COL11A1_ENST00000370096.3_Silent_p.P1122P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1122	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTCTTCCCCAGGGGAGCCGG	0.463000													25	39					0	0	0.045705	0	0
MYEOV2	150678	broad.mit.edu	37	2	241066107	241066107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:241066107C>A	ENST00000307266.3	-	5	631	c.632G>T	c.(631-633)aGc>aTc	p.S211I		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGTCTTCGCTGACCTCTCG	0.478000													41	57					2.66277e-13	3.37364e-13	0.027894	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122049	90122049	+	RNA	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:90122049T>A	ENST00000483379.1	+	0	448																											GCAGTGGATCTGGGACAGAAT	0.483000													61	96					0	0	0.048971	0	0
LPHN3	23284	broad.mit.edu	37	4	62758534	62758534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:62758534C>G	ENST00000512091.1	+	9	2184	c.1437C>G	c.(1435-1437)gaC>gaG	p.D479E	LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	479					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTTGATGACATGACCACAC	0.527000													9	42					0	0	0.006214	0	0
C11orf52	91894	broad.mit.edu	37	11	111796827	111796827	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:111796827G>T	ENST00000278601.5	+	4	372	c.276G>T	c.(274-276)gtG>gtT	p.V92V	C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	92										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CCCGGGAAGTGAAACACGTGC	0.552000													7	49					8.12818e-05	8.58827e-05	0.029380	1	0
PCDHA8	56140	broad.mit.edu	37	5	140223207	140223207	+	Silent	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:140223207G>C	ENST00000531613.1	+	1	2301	c.2301G>C	c.(2299-2301)acG>acC	p.T767T	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAAGACGGACCTCATGG	0.572000													12	33					0	0	0.013537	0	0
NCAM1	4684	broad.mit.edu	37	11	113105876	113105876	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:113105876G>A	ENST00000316851.7	+	13	1785	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	NCAM1_ENST00000533760.1_Silent_p.T477T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.T604T	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGTTCAAGACGCAGCCAGTCC	0.622000													5	17					0	0	0.014758	0	0
ST5	6764	broad.mit.edu	37	11	8737365	8737365	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:8737365G>C	ENST00000534127.1	-	9	2015	c.1629_splice	c.e9-1	p.L544_splice	ST5_ENST00000526099.1_Splice_Site_p.L57_splice|ST5_ENST00000357665.1_Splice_Site_p.L544_splice|ST5_ENST00000313726.6_Splice_Site_p.L544_splice|ST5_ENST00000526757.1_Splice_Site_p.L124_splice|ST5_ENST00000530991.1_Splice_Site_p.L16_splice|ST5_ENST00000530438.1_Splice_Site_p.L124_splice	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	544					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCAGGGAAAGCTGGCGTGGG	0.632000													18	42					0	0	0.038395	0	0
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:20296501G>T	ENST00000315947.1	+	1	894	c.894G>T	c.(892-894)atG>atT	p.M298I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353000													14	28					1.5842e-08	1.83296e-08	0.016723	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374223	95374223	+	RNA	SNP	A	A	G	rs9839680	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:95374223A>G	ENST00000494840.1	-	0	1638					NR_077228.1																						ACGTATGTGCAGTGACATTAC	0.428000													3	29					0	0	0.009096	0	0
AC008268.2	0	broad.mit.edu	37	2	96457948	96457948	+	RNA	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:96457948C>T	ENST00000471661.1	+	0	116																											GTGACTGGTTCGTGGTTCTTC	0.562000													4	18					0	0	0.021553	0	0
ZNF471	57573	broad.mit.edu	37	19	57035697	57035697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:57035697G>T	ENST00000308031.5	+	5	394	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTCAGATTGGGAATCTATAT	0.333000													14	50					2.23348e-06	2.44287e-06	0.028581	1	0
KIAA1429	25962	broad.mit.edu	37	8	95538791	95538791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:95538791C>T	ENST00000297591.5	-	8	1756	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K|KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	561					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACAAGACTTCATAGAAATGG	0.403000													33	164					0	0	0.017118	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204425081	204425081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:204425081G>A	ENST00000367187.3	-	12	2402	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCATGCTTGCGGCTCCCGGGC	0.612000													39	64					0	0	0.042209	0	0
MYOCD	93649	broad.mit.edu	37	17	12661501	12661501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:12661501C>T	ENST00000425538.1	+	12	2502	c.2302C>T	c.(2302-2304)Cct>Tct	p.P768S	MYOCD_ENST00000395988.1_Missense_Mutation_p.P672S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P720S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	720					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTAACACAGCCTCCATCCTA	0.393000													11	49					0	0	0.010729	0	0
SMEK2	57223	broad.mit.edu	37	2	55831140	55831140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:55831140C>T	ENST00000272313.5	-	3	598	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SMEK2_ENST00000345102.5_Missense_Mutation_p.D91N|SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	91	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGATCTCATCACAGCCAGCT	0.299000													16	65					0	0	0.055883	0	0
ACTG1	71	broad.mit.edu	37	17	79478246	79478246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:79478246C>T	ENST00000575842.1	-	3	1196	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y|ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y			P63261	ACTG_HUMAN	actin, gamma 1	257					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGCCTCCGGACACCGGAACCG	0.577000													18	108					0	0	0.055883	0	0
SVEP1	79987	broad.mit.edu	37	9	113163273	113163273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:113163273T>C	ENST00000401783.2	-	40	10019	c.9683A>G	c.(9682-9684)gAg>gGg	p.E3228G	SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3228	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGGTGGCTCCCAGGTTCC	0.368000													14	29					0	0	0.024245	0	0
PCCB	5096	broad.mit.edu	37	3	135969356	135969356	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr3:135969356C>T	ENST00000471595.1	+	1	157	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PCCB_ENST00000478469.1_Silent_p.L47L|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000251654.4_Silent_p.L47L|PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000466072.1_Silent_p.L47L			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	47	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCGGACCGCGCTGCTGGGAGG	0.667000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	0.010729	0	0
MYOM1	8736	broad.mit.edu	37	18	3116435	3116435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:3116435C>T	ENST00000400569.3	-	21	3530	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G1066E			P52179	MYOM1_HUMAN	myomesin 1	1066	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGAGTCCGCCCGGAGTGGAC	0.547000													22	23					0	0	0.021523	0	0
AGAP4	119016	broad.mit.edu	37	10	46322017	46322017	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:46322017C>T	ENST00000448048.2	-	7	1463	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	446	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						TGTTTTGGATCGACTGCAGGG	0.552000													63	48					0	0	0.048971	0	0
AHNAK	79026	broad.mit.edu	37	11	62289123	62289123	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:62289123T>C	ENST00000378024.4	-	5	13040	c.12766A>G	c.(12766-12768)Aag>Gag	p.K4256E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4256					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTG	0.478000													61	327					0	0	0.048971	0	0
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:152665276G>T	ENST00000367255.5	-	74	12766	c.12165C>A	c.(12163-12165)gtC>gtA	p.V4055V	SYNE1_ENST00000341594.5_Silent_p.V3920V|SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000265368.4_Silent_p.V4055V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V4055V(2)|p.V3984V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.483000										HNSCC(10;0.0054)			42	39					3.61848e-18	4.77912e-18	0.030466	1	0
ZHX3	23051	broad.mit.edu	37	20	39832794	39832794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:39832794C>A	ENST00000309060.3	-	4	1178	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W|ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	255	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATCAGGGGCCCGTTGGCGGCA	0.582000													22	69					1.87028e-06	2.05364e-06	0.012319	1	0
LRP1B	53353	broad.mit.edu	37	2	141571366	141571366	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:141571366A>G	ENST00000389484.3	-	32	6190	c.5219T>C	c.(5218-5220)aTa>aCa	p.I1740T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAGTCTATCGATAGACC	0.343000										TSP Lung(27;0.18)			7	58					0	0	0.047766	0	0
HIF3A	64344	broad.mit.edu	37	19	46815462	46815462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:46815462G>C	ENST00000339613.2	+	7	902	c.647G>C	c.(646-648)tGt>tCt	p.C216S	HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S|HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000377670.4_Missense_Mutation_p.C272S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCGGCTGTTCCGCCTAC	0.602000													57	98					0	0	0.048971	0	0
TSEN34	79042	broad.mit.edu	37	19	54695621	54695621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:54695621G>A	ENST00000396383.1	+	3	604	c.293G>A	c.(292-294)aGc>aAc	p.S98N	TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	98					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGAGCAGAGCGCCTTGGCA	0.582000													25	72					0	0	0.024334	0	0
GRM3	2913	broad.mit.edu	37	7	86479718	86479718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:86479718C>T	ENST00000394720.2	+	4	1528	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	GRM3_ENST00000546348.1_Silent_p.S400S|GRM3_ENST00000361669.2_Silent_p.S808S|GRM3_ENST00000439827.1_Missense_Mutation_p.P453S|GRM3_ENST00000536043.1_Silent_p.S680S			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTGTCAGCCTGAGTGGCT	0.488000													17	30					0	0	0.043863	0	0
SGSM3	27352	broad.mit.edu	37	22	40800432	40800432	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:40800432C>T	ENST00000248929.9	+	5	528	c.339C>T	c.(337-339)gcC>gcT	p.A113A	SGSM3_ENST00000454798.2_Silent_p.A46A	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	113					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGGTGCTGGCCGGCATCCCAC	0.607000													23	12					0	0	0.018920	0	0
SEMA5A	9037	broad.mit.edu	37	5	9190523	9190523	+	Missense_Mutation	SNP	G	G	C	rs147170997		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:9190523G>C	ENST00000382496.5	-	11	1794	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	377	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGAACTTCTGAGCATCCTGC	0.577000													23	33					0	0	0.016522	0	0
ZNF398	57541	broad.mit.edu	37	7	148851047	148851047	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:148851047G>T	ENST00000475153.1	+	2	302	c.35G>T	c.(34-36)tGg>tTg	p.W12L	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	12					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACATCTGAATGGGACTCCGAG	0.493000													21	88					2.98393e-07	3.35543e-07	0.016522	1	0
C12orf40	283461	broad.mit.edu	37	12	40076610	40076610	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:40076610A>C	ENST00000324616.5	+	8	1038	c.884A>C	c.(883-885)aAt>aCt	p.N295T	C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	295										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTATCAGAGAATTGTGACTCT	0.318000													34	81					0	0	0.045705	0	0
ARID1A	8289	broad.mit.edu	37	1	27100151	27100151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:27100151C>A	ENST00000324856.7	+	16	4318	c.3947C>A	c.(3946-3948)tCg>tAg	p.S1316*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316*	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		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)		AACCCAGACTCGGGGATGTAT	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	38					9.39024e-22	1.27018e-21	0.036044	1	0
UNC79	57578	broad.mit.edu	37	14	94088414	94088414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:94088414C>G	ENST00000553484.1	+	31	5055	c.4901C>G	c.(4900-4902)tCa>tGa	p.S1634*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.S1435*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.S1612*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.S1612*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1612						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATCTATCCTCAGATTCAACC	0.468000													36	97					0	0	0.054565	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502529	90502529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr9:90502529C>T	ENST00000325643.5	+	4	3193	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGAGAAGCCCCCAACTTGGGA	0.602000													9	60					0	0	0.006214	0	0
BRIP1	83990	broad.mit.edu	37	17	59763514	59763514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:59763514C>A	ENST00000259008.2	-	19	2855	c.2588G>T	c.(2587-2589)tGg>tTg	p.W863L	BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	863					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCCGTACCCATTTAGAAAG	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					6	80					3.86212e-05	4.09619e-05	0.008291	1	0
ATP2B3	492	broad.mit.edu	37	X	152807330	152807330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:152807330C>A	ENST00000370186.1	+	4	936	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	ATP2B3_ENST00000349466.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCAGCTCCTCCAGGTCCC	0.622000													61	27					3.07184e-27	4.23702e-27	0.048971	1	0
GFRA1	2674	broad.mit.edu	37	10	118029071	118029071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:118029071T>A	ENST00000439649.3	-	4	729	c.362A>T	c.(361-363)tAt>tTt	p.Y121F	GFRA1_ENST00000355422.6_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	121					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTGGTTCATATGGGGAATC	0.403000													8	49					0	0	0.047766	0	0
HUWE1	10075	broad.mit.edu	37	X	53672318	53672318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:53672318C>G	ENST00000342160.3	-	6	906	c.449G>C	c.(448-450)cGt>cCt	p.R150P	HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P|HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	150					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCCAGACGAGTGATGTA	0.458000													16	14					0	0	0.028581	0	0
BRD8	10902	broad.mit.edu	37	5	137476488	137476488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:137476488A>G	ENST00000254900.5	-	26	3892	c.3521T>C	c.(3520-3522)cTg>cCg	p.L1174P		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1174	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGAACATCAGCATCAGGTC	0.483000													60	255					0	0	0.048971	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100441774	100441774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:100441774C>A	ENST00000279907.7	-	18	4131	c.3919G>T	c.(3919-3921)Gca>Tca	p.A1307S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTACTGTTGCAACAGTTTCA	0.279000													11	15					1.58986e-06	1.75261e-06	0.008291	1	0
USP17L2	377630	broad.mit.edu	37	8	11994697	11994697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:11994697C>A	ENST00000333796.3	-	1	1889	c.1573G>T	c.(1573-1575)Gct>Tct	p.A525S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	525					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACAAGCAGAGCCCTCTTGCTG	0.577000													12	42					1.05317e-09	1.26561e-09	0.020292	1	0
CFH	3075	broad.mit.edu	37	1	196643062	196643062	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:196643062G>T	ENST00000367429.4	+	3	560	c.320G>T	c.(319-321)gGt>gTt	p.G107V	CFH_ENST00000439155.2_Missense_Mutation_p.G107V|CFH_ENST00000359637.2_Missense_Mutation_p.G107V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	107	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGAATATGGTGTAAAAGCT	0.333000													20	127					1.22574e-08	1.42409e-08	0.014323	1	0
OR52N5	390075	broad.mit.edu	37	11	5799295	5799295	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:5799295G>A	ENST00000317093.2	-	1	602	c.570C>T	c.(568-570)caC>caT	p.H190H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTACAGACATGTGGTCGCAGT	0.423000													4	65					0	0	0.009096	0	0
MMEL1	79258	broad.mit.edu	37	1	2540804	2540804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:2540804G>A	ENST00000288709.6	-	6	722	c.482C>T	c.(481-483)aCg>aTg	p.T161M	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.T170M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	170					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGGTACAGCGTCCTGGCCTT	0.687000													6	5					0	0	0.038147	0	0
TSIX	9383	broad.mit.edu	37	X	73041212	73041212	+	RNA	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chrX:73041212A>T	ENST00000604411.1	+	0	29173				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTTGAAGCATATTTTGGCTTC	0.333000													7	4					0	0	0.038147	0	0
FBXL13	222235	broad.mit.edu	37	7	102604000	102604000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:102604000G>T	ENST00000393772.2	-	8	1130	c.704C>A	c.(703-705)cCc>cAc	p.P235H	FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000313221.4_Missense_Mutation_p.P235H			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	235										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAAAGTTTTGGGTCGGAGAAG	0.328000													20	55					3.62473e-10	4.39361e-10	0.012319	1	0
DOCK1	1793	broad.mit.edu	37	10	129183096	129183096	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:129183096G>C	ENST00000280333.6	+	38	3896	c.3787G>C	c.(3787-3789)Ggg>Cgg	p.G1263R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1263	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGCGGGACGGGTACCAGGC	0.562000													13	71					0	0	0.020292	0	0
OR10A7	121364	broad.mit.edu	37	12	55615024	55615024	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:55615024T>C	ENST00000326258.1	+	1	216	c.216T>C	c.(214-216)tgT>tgC	p.C72C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGAAGTATGTTTCACCTTGG	0.408000													50	171					0	0	0.048971	0	0
ESPL1	9700	broad.mit.edu	37	12	53676136	53676136	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:53676136A>T	ENST00000257934.4	+	14	2799	c.2708A>T	c.(2707-2709)cAg>cTg	p.Q903L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	903					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCGTGTCCAGGTCCTGCAG	0.577000													43	90					0	0	0.033182	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504953	151504953	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr4:151504953C>A	ENST00000317605.4	+	1	1877	c.772C>A	c.(772-774)Cgg>Agg	p.R258R	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	258					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAAGACTCTGCGGGACCGCCA	0.627000													31	23					2.4375e-19	3.25e-19	0.034045	1	0
LAMA5	3911	broad.mit.edu	37	20	60908211	60908211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr20:60908211G>A	ENST00000252999.3	-	26	3283	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1073	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGGCCGGGGCAGGCTG	0.701000													8	6					0	0	0.038147	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541965	101541965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr8:101541965C>T	ENST00000520311.1	-	3	900	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ANKRD46_ENST00000520552.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	33						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCCACTTTCCAAAAGCCGC	0.453000													14	90					0	0	0.020292	0	0
NSD1	64324	broad.mit.edu	37	5	176684042	176684042	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:176684042G>C	ENST00000439151.2	+	13	4901	c.4856G>C	c.(4855-4857)tGt>tCt	p.C1619S	NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S|NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1619					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATGAAGAGTGTGTCCAGAAG	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			39	50					0	0	0.027894	0	0
LRFN5	145581	broad.mit.edu	37	14	42361015	42361015	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:42361015A>G	ENST00000298119.4	+	4	3137	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	650						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTGGCACAAAGCCAAGTAC	0.478000										HNSCC(30;0.082)			12	26					0	0	0.010729	0	0
TFIP11	24144	broad.mit.edu	37	22	26894935	26894935	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:26894935T>A	ENST00000407690.1	-	10	1619	c.1336A>T	c.(1336-1338)Act>Tct	p.T446S	TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	446					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCCATAAGTGCAGTCCTGA	0.557000													106	63					0	0	0.048971	0	0
ABCA12	26154	broad.mit.edu	37	2	215880315	215880315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:215880315T>A	ENST00000272895.7	-	15	2074	c.1855A>T	c.(1855-1857)Aaa>Taa	p.K619*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	619					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGAATTCTTTCATTGCATCT	0.403000													8	25					0	0	0.038147	0	0
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443000													6	69					0	0	0.021553	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	121					0	0	0.014758	0	0
MYH4	4622	broad.mit.edu	37	17	10362566	10362566	+	Splice_Site	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:10362566A>T	ENST00000255381.2	-	15	1698		c.e15+1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGTCATATGAACCTTCTCGAT	0.473000													15	51					0	0	0.024245	0	0
DENND4A	10260	broad.mit.edu	37	15	65959832	65959832	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr15:65959832T>C	ENST00000443035.3	-	29	5408	c.5193A>G	c.(5191-5193)ttA>ttG	p.L1731L	DENND4A_ENST00000431932.2_Silent_p.L1688L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAATCCAGGTAAGTTACTGG	0.368000													9	47					0	0	0.008291	0	0
TRRAP	8295	broad.mit.edu	37	7	98609784	98609784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:98609784G>T	ENST00000359863.4	+	72	11595	c.11386G>T	c.(11386-11388)Gcc>Tcc	p.A3796S	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3796	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCTCGGCCGCCGGGCAGCC	0.582000													16	23					1.99824e-07	2.25607e-07	0.033300	1	0
NSD1	64324	broad.mit.edu	37	5	176637776	176637776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:176637776C>A	ENST00000439151.2	+	5	2421	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	792					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATAAAGTGCAAACACAAAG	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	38					0.000673444	0.000695809	0.008291	1	0
AMPD1	270	broad.mit.edu	37	1	115216688	115216688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:115216688delA	ENST00000369538.3	-	13	1950	c.1903delT	c.(1903-1905)acfs	p.Y635fs	AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Y639fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	606					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAACAAGTACTGTAGCACG	0.343													10	75	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:154680586_154680588delGCT	ENST00000271915.3	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)ctc>c	p.QL687del	KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													7	129	---	---	---	---					
IL19	29949	broad.mit.edu	37	1	207010323	207010323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:207010323delA	ENST00000270218.6	+	4	1104	c.165delA	c.(163-165)ccfs	p.P55fs	IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	55					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCTTCCCAAATGTCACTA	0.418													24	176	---	---	---	---					
RNF181	51255	broad.mit.edu	37	2	85824002	85824006	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:85824002_85824006delTGCCT	ENST00000441634.1	+	3	314_318	c.275_279delTGCCT	c.(274-279)afs	p.MP92fs	RNF181_ENST00000306368.4_Frame_Shift_Del_p.MP92fs			Q9P0P0	RN181_HUMAN	ring finger protein 181	92							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						GCCATTGAGATGCCTTGCCATCACC	0.532													15	194	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243704	233243716	+	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TGGAACCGCGAGG	-	rs113323105	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:233243704_233243716delTGGAACCGCGAGG	ENST00000392027.2	+	2	369_381	c.100_112delTGGAACCGCGAGG	c.(100-114)cafs	p.WNREA34fs		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	34						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC	0.634													11	96	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26988405	26988405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:26988405delC	ENST00000231021.4	-	2	208	c.36delG	c.(34-36)tgfs	p.W12fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATATAGGTCCAGATGAATA	0.348													7	84	---	---	---	---					
LIN28B	389421	broad.mit.edu	37	6	105474345	105474346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:105474345_105474346insA	ENST00000345080.4	+	3	574_575	c.371_372insA	c.(370-372)caafs	p.Q124fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	124					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAAAGAAAACCAAAGGGAGATA	0.376													25	83	---	---	---	---					
EPHA1	2041	broad.mit.edu	37	7	143095840	143095841	+	Frame_Shift_Ins	INS	-	-	G	rs143087087		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:143095840_143095841insG	ENST00000275815.3	-	6	1275_1276	c.1189_1190insC	c.(1189-1191)gggfs	p.G397fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	397	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTGAGCCCCCGGGCCCCCGGC	0.614													13	41	---	---	---	---					
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:15646284delC	ENST00000378076.3	-	20	2394	c.2041delG	c.(2041-2043)aafs	p.E681fs		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358													12	36	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37508037	37508037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37508037delT	ENST00000374660.1	+	40	3685	c.3586delT	c.(3586-3588)ttfs	p.F1196fs	ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.F1077fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAAATACTTTGAGGACAT	0.333													24	96	---	---	---	---					
FAM213A	84293	broad.mit.edu	37	10	82187100	82187100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:82187100delG	ENST00000372181.1	+	4	894	c.424delG	c.(424-426)gtfs	p.G142fs	FAM213A_ENST00000372185.1_Frame_Shift_Del_p.G131fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.G142fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.G142fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	142						extracellular region											AAAGTTCTATGGTCCACAAAG	0.493													36	116	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56490314	56490319	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:56490314_56490319delAAGGCT	ENST00000267101.3	+	18	2523_2528	c.2083_2088delAAGGCT	c.(2083-2088)del	p.KA695del	ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del|ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	695					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCAGTGAGAAGGCTAACAAAGTCT	0.510													48	163	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24788954	24788954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:24788954delA	ENST00000310677.4	-	22	2840	c.2727delT	c.(2725-2727)ttfs	p.F909fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCACCTCATCAAAATCAGCAA	0.453													27	52	---	---	---	---					
TMX1	81542	broad.mit.edu	37	14	51713848	51713858	+	Frame_Shift_Del	DEL	GGACTAAGAAG	GGACTAAGAAG	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:51713848_51713858delGGACTAAGAAG	ENST00000457354.2	+	4	478_488	c.353_363delGGACTAAGAAG	c.(352-363)afs	p.RTKK118fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	118	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAGGGTCCAAGGACTAAGAAGGACTTCATAA	0.351													8	95	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67289038	67289043	+	In_Frame_Del	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:67289038_67289043delTCTTTA	ENST00000299798.11	+	3	670_675	c.605_610delTCTTTA	c.(604-612)ctc>c	p.LFI202del	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	202				L -> V (in Ref. 4; AAA87678).	regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AATGAGACTCTCTTTATCATCGTCTT	0.583													7	95	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20859932	20859933	+	RNA	INS	-	-	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:20859932_20859933insT	ENST00000582583.1	+	0	622				RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000584433.1_RNA																							TTTCTTCTGTCTTTTTTTTCCA	0.401													3	5	---	---	---	---					
MYO19	80179	broad.mit.edu	37	17	34852240	34852241	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:34852240_34852241delTT	ENST00000431794.3	-	26	3289_3290	c.2767_2768delAA	c.(2767-2769)gfs	p.K923fs	MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000590858.1_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	923	Mitochondrial targeting.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGTGAAACTTTATCGATCCC	0.495													10	44	---	---	---	---					
FSCN2	25794	broad.mit.edu	37	17	79503253	79503255	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79503253_79503255delGAA	ENST00000417245.2	+	3	1201_1203	c.1065_1067delGAA	c.(1063-1068)atg>at	p.MK355del	FSCN2_ENST00000334850.7_In_Frame_Del_p.MK355del	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	355					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGTGTGCATGAAGAAGAATGGG	0.601													5	5	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2703849	2703852	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:2703849_2703852delGAAT	ENST00000320876.6	+	13	2145_2148	c.1807_1810delGAAT	c.(1807-1812)ggfs	p.EW603fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	603					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCAGCAATAGAATGGGATGGAAA	0.319													12	83	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15271836	15271836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15271836delG	ENST00000263388.2	-	33	6678	c.6603delC	c.(6601-6603)ccfs	p.P2201fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGGGGAGACGGGGGTCCCTG	0.741													2	4	---	---	---	---					
ZNF211	10520	broad.mit.edu	37	19	58152339	58152340	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58152339_58152340delCT	ENST00000544273.1	+	5	848_849	c.521_522delCT	c.(520-522)cfs	p.P174fs	ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.P162fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs			Q13398	ZN211_HUMAN	zinc finger protein 211	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGAGGCACCTTTCAGAAGTT	0.470													25	58	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								5	5	---	---	---	---					
CHEK2	11200	broad.mit.edu	37	22	29095857	29095867	+	Frame_Shift_Del	DEL	AGCTTGCAGGT	AGCTTGCAGGT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:29095857_29095867delAGCTTGCAGGT	ENST00000544772.1	-	10	1740_1750	c.304_314delACCTGCAAGCT	c.(304-315)cfs	p.TCKL102fs	CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	323					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC	0.464			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					48	124	---	---	---	---					
AMPD1	270	broad.mit.edu	37	1	115216688	115216688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:115216688delA	ENST00000369538.3	-	13	1950	c.1903delT	c.(1903-1905)acfs	p.Y635fs	AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Y639fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	606					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAACAAGTACTGTAGCACG	0.343													10	75	---	---	---	---					
IL19	29949	broad.mit.edu	37	1	207010323	207010323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr1:207010323delA	ENST00000270218.6	+	4	1104	c.165delA	c.(163-165)ccfs	p.P55fs	IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	55					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCTTCCCAAATGTCACTA	0.418													24	176	---	---	---	---					
RNF181	51255	broad.mit.edu	37	2	85824002	85824006	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:85824002_85824006delTGCCT	ENST00000441634.1	+	3	314_318	c.275_279delTGCCT	c.(274-279)afs	p.MP92fs	RNF181_ENST00000306368.4_Frame_Shift_Del_p.MP92fs			Q9P0P0	RN181_HUMAN	ring finger protein 181	92							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						GCCATTGAGATGCCTTGCCATCACC	0.532													15	194	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243704	233243716	+	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TGGAACCGCGAGG	-	rs113323105	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr2:233243704_233243716delTGGAACCGCGAGG	ENST00000392027.2	+	2	369_381	c.100_112delTGGAACCGCGAGG	c.(100-114)cafs	p.WNREA34fs		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	34						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC	0.634													11	96	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26988405	26988405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr5:26988405delC	ENST00000231021.4	-	2	208	c.36delG	c.(34-36)tgfs	p.W12fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATATAGGTCCAGATGAATA	0.348													7	84	---	---	---	---					
LIN28B	389421	broad.mit.edu	37	6	105474345	105474346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr6:105474345_105474346insA	ENST00000345080.4	+	3	574_575	c.371_372insA	c.(370-372)caafs	p.Q124fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	124					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAAAGAAAACCAAAGGGAGATA	0.376													25	83	---	---	---	---					
EPHA1	2041	broad.mit.edu	37	7	143095840	143095841	+	Frame_Shift_Ins	INS	-	-	G	rs143087087		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr7:143095840_143095841insG	ENST00000275815.3	-	6	1275_1276	c.1189_1190insC	c.(1189-1191)gggfs	p.G397fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	397	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTGAGCCCCCGGGCCCCCGGC	0.614													13	41	---	---	---	---					
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:15646284delC	ENST00000378076.3	-	20	2394	c.2041delG	c.(2041-2043)aafs	p.E681fs		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	681					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358													12	36	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37508037	37508037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:37508037delT	ENST00000374660.1	+	40	3685	c.3586delT	c.(3586-3588)ttfs	p.F1196fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.F1077fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAAATACTTTGAGGACAT	0.333													24	96	---	---	---	---					
FAM213A	84293	broad.mit.edu	37	10	82187100	82187100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr10:82187100delG	ENST00000372181.1	+	4	894	c.424delG	c.(424-426)gtfs	p.G142fs	FAM213A_ENST00000372188.1_Frame_Shift_Del_p.G142fs|FAM213A_ENST00000372185.1_Frame_Shift_Del_p.G131fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.G142fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	142						extracellular region											AAAGTTCTATGGTCCACAAAG	0.493													36	116	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56490314	56490319	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr12:56490314_56490319delAAGGCT	ENST00000267101.3	+	18	2523_2528	c.2083_2088delAAGGCT	c.(2083-2088)del	p.KA695del	ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	695					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCAGTGAGAAGGCTAACAAAGTCT	0.510													48	163	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24788954	24788954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:24788954delA	ENST00000310677.4	-	22	2840	c.2727delT	c.(2725-2727)ttfs	p.F909fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCACCTCATCAAAATCAGCAA	0.453													27	52	---	---	---	---					
TMX1	81542	broad.mit.edu	37	14	51713848	51713858	+	Frame_Shift_Del	DEL	GGACTAAGAAG	GGACTAAGAAG	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr14:51713848_51713858delGGACTAAGAAG	ENST00000457354.2	+	4	478_488	c.353_363delGGACTAAGAAG	c.(352-363)afs	p.RTKK118fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	118	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAGGGTCCAAGGACTAAGAAGGACTTCATAA	0.351													8	95	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67289038	67289043	+	In_Frame_Del	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr16:67289038_67289043delTCTTTA	ENST00000299798.11	+	3	670_675	c.605_610delTCTTTA	c.(604-612)ctc>c	p.LFI202del	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	202				L -> V (in Ref. 4; AAA87678).	regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AATGAGACTCTCTTTATCATCGTCTT	0.583													7	95	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20859932	20859933	+	RNA	INS	-	-	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:20859932_20859933insT	ENST00000582583.1	+	0	622				RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000584433.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000579168.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA																							TTTCTTCTGTCTTTTTTTTCCA	0.401													3	5	---	---	---	---					
MYO19	80179	broad.mit.edu	37	17	34852240	34852241	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:34852240_34852241delTT	ENST00000431794.3	-	26	3289_3290	c.2767_2768delAA	c.(2767-2769)gfs	p.K923fs	ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron|MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	923	Mitochondrial targeting.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGTGAAACTTTATCGATCCC	0.495													10	44	---	---	---	---					
FSCN2	25794	broad.mit.edu	37	17	79503253	79503255	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr17:79503253_79503255delGAA	ENST00000417245.2	+	3	1201_1203	c.1065_1067delGAA	c.(1063-1068)atg>at	p.MK355del	FSCN2_ENST00000334850.7_In_Frame_Del_p.MK355del	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	355					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGTGTGCATGAAGAAGAATGGG	0.601													5	5	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2703849	2703852	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr18:2703849_2703852delGAAT	ENST00000320876.6	+	13	2145_2148	c.1807_1810delGAAT	c.(1807-1812)ggfs	p.EW603fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	603					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCAGCAATAGAATGGGATGGAAA	0.319													12	83	---	---	---	---					
ZNF211	10520	broad.mit.edu	37	19	58152339	58152340	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr19:58152339_58152340delCT	ENST00000544273.1	+	5	848_849	c.521_522delCT	c.(520-522)cfs	p.P174fs	ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.P162fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs			Q13398	ZN211_HUMAN	zinc finger protein 211	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGAGGCACCTTTCAGAAGTT	0.470													25	58	---	---	---	---					
CHEK2	11200	broad.mit.edu	37	22	29095857	29095867	+	Frame_Shift_Del	DEL	AGCTTGCAGGT	AGCTTGCAGGT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	e55ecf9c-0059-48ac-ba84-6879a8ec7311	g.chr22:29095857_29095867delAGCTTGCAGGT	ENST00000544772.1	-	10	1740_1750	c.304_314delACCTGCAAGCT	c.(304-315)cfs	p.TCKL102fs	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	323					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC	0.464			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					48	124	---	---	---	---					
