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
RBM6	10180	broad.mit.edu	37	3	50095425	50095425	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:50095425G>C	ENST00000443081.1	+	9	2481	c.1562G>C	c.(1561-1563)gGa>gCa	p.G521A	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.G653A|RBM6_ENST00000442092.1_Missense_Mutation_p.G131A|RBM6_ENST00000422955.1_Missense_Mutation_p.G131A			P78332	RBM6_HUMAN	RNA binding motif protein 6	653	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CGCCAGGATGGAGAGAGCAAA	0.502000													7	1					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19503204	19503204	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:19503204G>A	ENST00000507958.1	-	13	2517	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	CDH18_ENST00000511273.1_Silent_p.I509I|CDH18_ENST00000506372.1_Silent_p.I509I|CDH18_ENST00000274170.4_Silent_p.I509I|CDH18_ENST00000382275.1_Silent_p.I509I|CDH18_ENST00000502796.1_Silent_p.I509I			Q13634	CAD18_HUMAN	cadherin 18, type 2	509	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAGTGGCACTGATGGTATGAA	0.323000													9	162					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108192065	108192065	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:108192065G>C	ENST00000278616.4	+	45	6875	c.6490G>C	c.(6490-6492)Gag>Cag	p.E2164Q	ATM_ENST00000452508.2_Missense_Mutation_p.E2164Q|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	136					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071989	197071989	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:197071989T>G	ENST00000367409.4	-	18	6648	c.6392A>C	c.(6391-6393)cAg>cCg	p.Q2131P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2131	IQ 17.				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						TATTCTTGACTGATGCATTTT	0.333000													12	146					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668503	10668503	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:10668503C>T	ENST00000312962.6	-	15	1465	c.1446G>A	c.(1444-1446)aaG>aaA	p.K482K	KRI1_ENST00000361821.5_Silent_p.K478K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	482										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTGCGCTTCTTCTTGCCCG	0.682000													8	14					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70532850	70532850	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:70532850G>C	ENST00000265872.6	+	19	2763	c.2644G>C	c.(2644-2646)Gaa>Caa	p.E882Q	CCAR1_ENST00000543719.1_Missense_Mutation_p.E867Q|CCAR1_ENST00000535016.1_Missense_Mutation_p.E867Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	882	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGAGGATGAAGAAGATGGTAT	0.284000													3	11					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090820	34090820	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:34090820G>C	ENST00000397527.1	+	30	5343	c.4623G>C	c.(4621-4623)caG>caC	p.Q1541H	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1485H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1541	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTGAGTCCCAGAGAGGACAGG	0.493000													6	63					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104156178	104156178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:104156178G>C	ENST00000388887.2	+	67	7690	c.7486G>C	c.(7486-7488)Gag>Cag	p.E2496Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2496					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.E2496K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGCATTTTGAGGTAAGAGA	0.527000													28	28					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42992255	42992255	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:42992255C>G	ENST00000252115.5	-	5	854	c.750G>C	c.(748-750)ttG>ttC	p.L250F	POLDIP3_ENST00000451060.2_Missense_Mutation_p.L94F|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.L221F|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	250					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACATGTTGGTCAAGGCTTTTG	0.542000													5	44					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38670780	38670780	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:38670780G>T	ENST00000373365.4	-	1	137	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	17					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	AGCAGCAACTGAGGGCGGCCT	0.692000													4	19					0.00024832	0.000254274	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647278	33647278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:33647278C>T	ENST00000558425.1	-	2	321	c.322G>A	c.(322-324)Gag>Aag	p.E108K																								GCCGTGTCCTCAGCTCTCAAG	0.532000													6	217					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145998792	145998792	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:145998792C>G	ENST00000429371.2	-	6	1632	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H	ZNF34_ENST00000343459.4_Missense_Mutation_p.Q514H	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AGTACGTGCTCTGGCTGAAGG	0.567000													58	102					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211464286	211464286	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:211464286G>C	ENST00000233072.5	+	14	1745		c.e14+1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTGAACTGTGGTGAGTTCTTA	0.423000													11	39					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109192905	109192905	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:109192905G>A	ENST00000370032.5	-	7	1104	c.684C>T	c.(682-684)atC>atT	p.I228I	HENMT1_ENST00000370031.1_Silent_p.I228I|HENMT1_ENST00000402983.1_Silent_p.I228I|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	228					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TTTTCCGGAAGATTCCTATCT	0.428000													30	35					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128773	35128773	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:35128773G>C	ENST00000373913.3	+	10	2742	c.2262G>C	c.(2260-2262)caG>caC	p.Q754H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.Q754H|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.Q757H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.Q757H|DLGAP4_ENST00000340491.4_Missense_Mutation_p.Q218H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	757					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGATTGCCCAGATCAAGCGCA	0.642000													9	23					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58013871	58013871	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:58013871G>A	ENST00000225577.4	+	12	1109	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R340Q|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R363Q|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R310Q	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	363	AGC-kinase C-terminal.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CTTCTGGCTCGAAAGGTGGAG	0.443000													32	628					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101796	81101796	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:81101796C>A	ENST00000228641.3	+	1	520	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	100					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCCGCCACCCTGCGCGAAAG	0.612000													19	40					6.94344e-10	7.37516e-10	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66476457	66476457	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:66476457G>C	ENST00000533211.1	-	11	1438	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	SPTBN2_ENST00000529997.1_Silent_p.L369L|SPTBN2_ENST00000309996.2_Silent_p.L369L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	369					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGATGGTGAAGAGCAGCACTT	0.577000													8	75					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61417549	61417549	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:61417549C>T	ENST00000424789.2	+	10	1445	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TANC2_ENST00000389520.4_Missense_Mutation_p.R481C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	481							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGCTCTGCCGCTCACCTCA	0.527000													22	43					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78481927	78481927	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:78481927C>G	ENST00000370763.5	+	3	1267	c.1010C>G	c.(1009-1011)tCa>tGa	p.S337*	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	337					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCCTGCCTCATAGAATGAA	0.358000													3	32					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	47					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162085	12162085	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:12162085C>G	ENST00000379388.2	+	8	7233	c.6901C>G	c.(6901-6903)Cag>Gag	p.Q2301E	HIVEP1_ENST00000541134.1_Missense_Mutation_p.Q166E	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2301					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCCGTGTCATCAGATGTCTGT	0.483000													9	82					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420907	38420907	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:38420907C>G	ENST00000323571.4	+	5	719	c.479C>G	c.(478-480)tCt>tGt	p.S160C	WIPF2_ENST00000585043.1_Missense_Mutation_p.S160C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.S160C|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	160						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCGGACCTCTCTCGGCCTAAT	0.657000										HNSCC(43;0.11)			22	40					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729560	196729560	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:196729560G>A	ENST00000312428.6	-	41	6919	c.6819C>T	c.(6817-6819)ttC>ttT	p.F2273F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2273					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						TGGGATCATGGAAATCACAAA	0.368000													41	39					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9803397	9803397	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:9803397G>C	ENST00000256460.3	-	6	651	c.474C>G	c.(472-474)atC>atG	p.I158M	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	158	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CGGAGATCATGATTTTGGAGT	0.577000													8	19					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139699037	139699037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:139699037C>G	ENST00000338005.6	+	7	785	c.750C>G	c.(748-750)atC>atG	p.I250M	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	250										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAAGCTGATCGACAAGATCC	0.632000													5	61					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7067996	7067996	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:7067996G>C	ENST00000299481.4	+	5	2402	c.2056G>C	c.(2056-2058)Gat>Cat	p.D686H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	686					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAGCAACCTTGATAAATCAGC	0.388000													20	86					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800464	48800464	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:48800464C>G	ENST00000315396.7	-	14	2464	c.1782G>C	c.(1780-1782)tcG>tcC	p.S594S		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	594	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCCCCCACTCGAGGCACTGG	0.647000													5	39					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51731509	51731509	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:51731509G>A	ENST00000256429.3	-	2	789	c.561C>T	c.(559-561)ttC>ttT	p.F187F	MBD2_ENST00000583046.1_Silent_p.F187F|MBD2_ENST00000398398.2_Silent_p.F187F	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	187	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GCTTGCTTCTGAACTTCTTAC	0.403000													5	44					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27077362	27077362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:27077362C>T	ENST00000261191.7	-	7	1266	c.730G>A	c.(730-732)Gct>Act	p.A244T	ASUN_ENST00000539625.1_Missense_Mutation_p.A143T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	244					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AATTTGGTAGCAAGATGCCGT	0.343000													4	75					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185906167	185906167	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:185906167C>T	ENST00000265022.3	-	22	2458	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y	DGKG_ENST00000544847.1_Splice_Site_p.C581Y|DGKG_ENST00000382164.4_Splice_Site_p.C601Y|DGKG_ENST00000344484.4_Splice_Site_p.C615Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	640					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AACCCCATCACACTGGAGGAC	0.532000													22	24					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294941	89294941	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:89294941C>G	ENST00000433976.2	+	6	2493	c.2161C>G	c.(2161-2163)Caa>Gaa	p.Q721E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.Q679E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCATCACACTCAAATTCACAC	0.373000													11	56					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015147	45015147	+	RNA	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:45015147G>A	ENST00000454753.1	-	0	1957							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGGGCATCAGAGGTTTGGGT	0.507000													21	51					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62559382	62559382	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:62559382C>T	ENST00000541428.1	-	6	619	c.459G>A	c.(457-459)gaG>gaA	p.E153E	ASPH_ENST00000517847.2_Silent_p.E168E|ASPH_ENST00000445642.3_Silent_p.E168E|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000379454.4_Silent_p.E182E|ASPH_ENST00000517903.1_Silent_p.E168E|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Silent_p.E182E	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	182	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACTCATCATCCTCTTGTTGTG	0.408000													34	420					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36275081	36275081	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:36275081G>A	ENST00000007510.4	+	16	1573	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.E341K|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.E477K			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	477	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGGTCCATGGAGCTGGAGTC	0.657000													9	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179517257	179517257	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:179517257G>C	ENST00000589042.1	-	202	39279	c.39055C>G	c.(39055-39057)Ccg>Gcg	p.P13019A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11512A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10585A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11373	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTTCGGAGCCTCTGGC	0.373000													37	85					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51401870	51401870	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:51401870C>T	ENST00000216392.7	-	3	711	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	PYGL_ENST00000544180.2_Missense_Mutation_p.E93K|PYGL_ENST00000532462.1_Missense_Mutation_p.E127K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	127					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GCATCTTCTTCAATTTCTTCT	0.403000													14	48					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69431361	69431361	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:69431361G>A	ENST00000317746.2	-	2	844	c.802C>T	c.(802-804)Cct>Tct	p.P268S		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	268					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AATGGGCGAGGAAATTCAAAA	0.388000													70	6					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37529147	37529147	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:37529147G>A	ENST00000432825.2	-	5	1728	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.I85I|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	560						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CGTGGTACAGGATGTAAATGC	0.488000													8	5					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11855349	11855349	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:11855349C>A	ENST00000376592.1	-	5	965	c.837G>T	c.(835-837)gaG>gaT	p.E279D	MTHFR_ENST00000376585.1_Missense_Mutation_p.E320D|MTHFR_ENST00000376590.3_Missense_Mutation_p.E279D|MTHFR_ENST00000376583.3_Missense_Mutation_p.E320D			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	279					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CGTCCTTGATCTCCTGTGGCA	0.602000													9	22					2.74318e-10	2.92283e-10	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	35					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130002789	130002789	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:130002789T>C	ENST00000485477.1	+	8	1830	c.701T>C	c.(700-702)aTa>aCa	p.I234T	CPA5_ENST00000393213.3_Missense_Mutation_p.I234T|CPA5_ENST00000474905.1_Missense_Mutation_p.I234T|CPA5_ENST00000355388.3_Missense_Mutation_p.I234T|CPA5_ENST00000466363.2_Missense_Mutation_p.I234T|CPA5_ENST00000461828.1_Missense_Mutation_p.I234T|CPA5_ENST00000431780.2_Missense_Mutation_p.I234T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	234					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GACATCTTCATAGAGCTCGTC	0.522000													35	26					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767732	143767732	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:143767732C>G	ENST00000419275.1	-	1	149	c.117G>C	c.(115-117)ctG>ctC	p.L39L		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	39	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.L39L(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCCAGTGCTCAGAGCACGAA	0.468000													7	303					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54675719	54675719	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:54675719G>A	ENST00000605337.1	+	4	795	c.747G>A	c.(745-747)aaG>aaA	p.K249K	MRPL37_ENST00000336230.6_Silent_p.K118K|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000360840.5_Silent_p.K249K			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	249					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AAGCTACTAAGAATCATGTTC	0.458000													18	66					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47736554	47736554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:47736554G>A	ENST00000371828.3	-	9	1340	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	STAU1_ENST00000371856.2_Nonsense_Mutation_p.Q360*|STAU1_ENST00000360426.4_Nonsense_Mutation_p.Q279*|STAU1_ENST00000371802.1_Nonsense_Mutation_p.Q285*|STAU1_ENST00000340954.7_Nonsense_Mutation_p.Q279*|STAU1_ENST00000347458.5_Nonsense_Mutation_p.Q279*|STAU1_ENST00000371792.1_Nonsense_Mutation_p.Q277*	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	360						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTGGTGGGCTGCGCCTGCGGG	0.577000													5	31					0	0	1	0	0
CACYBP	27101	broad.mit.edu	37	1	174973906	174973906	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:174973906G>A	ENST00000367681.2	+	2	683	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	CACYBP_ENST00000367679.2_Missense_Mutation_p.E58K|CACYBP_ENST00000406752.1_Missense_Mutation_p.E58K|CACYBP_ENST00000405362.1_Missense_Mutation_p.E15K	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	58	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TCTTGATAATGAAAAACCAGC	0.418000													9	67					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497894	61497894	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:61497894C>T	ENST00000424789.2	+	25	4555	c.4551C>T	c.(4549-4551)agC>agT	p.S1517S	TANC2_ENST00000389520.4_Silent_p.S1527S|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1517							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCGTTTCAGCCCCCCTCCTG	0.597000													3	27					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155279912	155279912	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:155279912G>T	ENST00000356657.6	+	3	417	c.255G>T	c.(253-255)caG>caT	p.Q85H	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.Q85H|FDPS_ENST00000447866.1_Missense_Mutation_p.Q19H	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	85					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATTTCGTTCAGCACTTCTCCC	0.493000													8	81					0.00621372	0.00628112	1	1	0
OR7A17	26333	broad.mit.edu	37	19	14991433	14991433	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:14991433G>C	ENST00000327462.2	-	1	831	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGACAACTGAGAGGTGTGATG	0.468000													11	77					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293264	45293264	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:45293264C>G	ENST00000447098.2	-	15	2192	c.2181G>C	c.(2179-2181)ctG>ctC	p.L727L	PTCH2_ENST00000372192.3_Silent_p.L727L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	727					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCTGGGCGCTCAGGAAGGCAT	0.642000									Basal Cell Nevus syndrome				9	13					0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719087	74719087	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:74719087C>G	ENST00000226524.3	+	1	182	c.8C>G	c.(7-9)tCc>tGc	p.S3C		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	3					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AACATGAGCTCCGCAGCCAGG	0.642000													10	45					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582079	51582079	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:51582079G>C	ENST00000391802.1	-	6	862	c.644C>G	c.(643-645)tCt>tGt	p.S215C	KLK14_ENST00000156499.2_Missense_Mutation_p.S215C	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	215	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TACCTGACAAGAGTCCTTCCC	0.537000													59	211					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337144	151337144	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:151337144C>T	ENST00000435071.1	-	12	1564	c.1102G>A	c.(1102-1104)Gta>Ata	p.V368I	SELENBP1_ENST00000368868.5_Missense_Mutation_p.V432I|SELENBP1_ENST00000447402.3_Missense_Mutation_p.V370I|SELENBP1_ENST00000426705.2_Missense_Mutation_p.V474I			Q13228	SBP1_HUMAN	selenium binding protein 1	432					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCCTTTTACTGTGTCTACA	0.587000													40	46					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88258313	88258313	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:88258313G>A	ENST00000369536.5	-	6	492	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	149				I -> V (in Ref. 1; BAB14608).	arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTACCTATGATGGTAGAAC	0.299000													5	22					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237614	38237614	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:38237614C>T	ENST00000379705.3	-	6	2484	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.E543K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E370K|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.E543K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E543K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E543K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E543K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E370K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	543					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTTCGTTTCTTCATAATAG	0.358000													6	58					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121738001	121738001	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:121738001G>T	ENST00000264808.3	-	6	969	c.729C>A	c.(727-729)ttC>ttA	p.F243L	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	243					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGCTGAACTGAAGGAAGAAT	0.383000													43	129					4.44401e-20	4.83558e-20	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39627032	39627032	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:39627032G>C	ENST00000265708.4	-	12	1194	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S238*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S345*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S364*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	364	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S364L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTCTGCTTTGAAATAAAATG	0.408000													31	46					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187521283	187521283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:187521283G>A	ENST00000441802.2	-	22	12081	c.11872C>T	c.(11872-11874)Cag>Tag	p.Q3958*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3958	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Q3958*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTCCCTGCTGACGGATGTGG	0.483000										HNSCC(5;0.00058)			12	45					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577164	158577164	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:158577164A>C	ENST00000361284.1	+	1	936	c.936A>C	c.(934-936)aaA>aaC	p.K312N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTGGGTAAAGGATGAAGGT	0.488000													11	148					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51151111	51151111	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:51151111G>A	ENST00000342995.2	+	1	1345	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCACCCCCTGGGAGGTTCTT	0.612000													12	42					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889615	57889615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:57889615G>A	ENST00000381227.1	+	20	3048	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K	POLR2B_ENST00000441246.2_Missense_Mutation_p.E872K|POLR2B_ENST00000431623.2_Missense_Mutation_p.E804K|POLR2B_ENST00000314595.5_Missense_Mutation_p.E879K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	879					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAATGAAGATGAATTGGAGAG	0.443000													27	72					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965870	23965870	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:23965870C>T	ENST00000335694.4	-	6	865	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	GGTLC1_ENST00000278765.4_Missense_Mutation_p.E221K|GGTLC1_ENST00000286890.4_Missense_Mutation_p.E221K	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	221							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCAGCAGGTTCCCCACCTTTC	0.582000													10	9					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18943110	18943110	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:18943110C>G	ENST00000262803.5	+	1	364	c.92C>G	c.(91-93)tCc>tGc	p.S31C	UPF1_ENST00000599848.1_Missense_Mutation_p.S31C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	31	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACACAGGGCTCCGAGTTCGAG	0.721000													4	50					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33290991	33290991	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:33290991C>T	ENST00000280979.4	+	13	4142	c.3972C>T	c.(3970-3972)ctC>ctT	p.L1324L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1324					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTAAGAGTCTCAGTAAAGACT	0.423000													7	37					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010559	59010559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:59010559C>A	ENST00000263093.2	-	8	1805	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000601355.1_Nonsense_Mutation_p.E482*|SLC27A5_ENST00000594786.1_5'UTR	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	566					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCCTCCACCTCGTGCGTGGAC	0.632000													17	14					1.22574e-08	1.2886e-08	1	1	0
MAP2	4133	broad.mit.edu	37	2	210560522	210560522	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:210560522A>G	ENST00000360351.4	+	7	4134	c.3628A>G	c.(3628-3630)Ata>Gta	p.I1210V	MAP2_ENST00000447185.1_Missense_Mutation_p.I1206V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1210					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACCCCAGATATATCCATCAC	0.468000													7	24					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96076414	96076414	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:96076414G>C	ENST00000371380.3	+	28	6478	c.6243G>C	c.(6241-6243)caG>caC	p.Q2081H	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q1773H|PLCE1_ENST00000371385.3_Missense_Mutation_p.Q1773H|PLCE1_ENST00000260766.3_Missense_Mutation_p.Q2081H			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCATTCCAGAGAGCCATTG	0.378000													12	52					0	0	1	0	0
RPRML	388394	broad.mit.edu	37	17	45056119	45056119	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:45056119G>A	ENST00000322329.3	-	1	495	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	85						integral to membrane				lung(1)	1						AGCCCAGGAAGAAGACGCCGA	0.677000													12	2					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616348	92616348	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:92616348G>A	ENST00000298047.6	+	23	12743	c.12726G>A	c.(12724-12726)caG>caA	p.Q4242Q	FAT3_ENST00000533797.1_Silent_p.Q577Q|FAT3_ENST00000409404.2_Silent_p.Q4242Q|FAT3_ENST00000525166.1_Silent_p.Q4092Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4242					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGCTTCCAGAGTGACTCCA	0.662000										TCGA Ovarian(4;0.039)			8	136					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47810410	47810410	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:47810410C>T	ENST00000285106.6	-	10	1981	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CXXC1_ENST00000589940.1_Missense_Mutation_p.E423K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E427K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	423					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGTGCTCTTCAGCAATGCAA	0.587000													12	57					0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16229041	16229041	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:16229041G>T	ENST00000300935.3	+	2	403	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	RAB8A_ENST00000586682.1_Missense_Mutation_p.D44Y	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	44					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TTCAGGAATTGACTTTAAAAT	0.453000													12	39					0.000151284	0.000155689	1	1	0
OR7C1	26664	broad.mit.edu	37	19	14910580	14910580	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:14910580G>A	ENST00000248073.2	-	1	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	123					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGACGGCCACGAAGCGGTCAT	0.502000													7	54					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9541463	9541463	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:9541463G>A	ENST00000281419.3	+	27	3224	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K	ASAP2_ENST00000315273.4_Missense_Mutation_p.E917K	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	962	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CAACCCCGATGAGCTCACCTT	0.602000													6	46					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10657529	10657529	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:10657529G>A	ENST00000309469.4	+	4	681	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	170					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.E170K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GACATGGGCCGAGGGCATGGG	0.647000													8	30					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763761	82763761	+	Silent	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:82763761A>G	ENST00000333891.9	-	3	3442	c.3105T>C	c.(3103-3105)tcT>tcC	p.S1035S	PCLO_ENST00000423517.2_Silent_p.S1035S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						CAGCTGTTAAAGATTTGCTAT	0.433000													14	21					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2074824	2074824	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:2074824C>T	ENST00000280665.6	-	5	501	c.422G>A	c.(421-423)gGa>gAa	p.G141E	DCP1B_ENST00000397173.4_Missense_Mutation_p.G39E|DCP1B_ENST00000540622.1_Missense_Mutation_p.G15E|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	141					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGCTCCAGTTCCCTGATGGGC	0.418000													26	20					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40769603	40769603	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:40769603G>C	ENST00000397128.2	-	5	519	c.511C>G	c.(511-513)Ctt>Gtt	p.L171V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.L186V|PRKAA1_ENST00000296800.4_Missense_Mutation_p.L162V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	171	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATGTTTGAAAGACCTGAAAGT	0.328000													24	231					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35990093	35990093	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:35990093C>G	ENST00000349699.2	-	5	757	c.714G>C	c.(712-714)ctG>ctC	p.L238L	DDX52_ENST00000394367.3_Silent_p.L130L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	238	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GTGATATAATCAGGGCTCTGA	0.403000													65	164					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17150938	17150938	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:17150938G>T	ENST00000265970.7	-	12	2307	c.2308C>A	c.(2308-2310)Cag>Aag	p.Q770K	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q390K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	770					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CCACTGCTCTGATTTAAAATT	0.353000													5	35					0.0215528	0.0217223	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25391770	25391770	+	Silent	SNP	C	C	T	rs149911152		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:25391770C>T	ENST00000315368.3	+	8	670	c.528C>T	c.(526-528)ctC>ctT	p.L176L	ANAPC4_ENST00000510092.1_Silent_p.L176L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	176					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTAATATTCTCGTCCTTGGAG	0.343000													9	51					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43096945	43096945	+	Missense_Mutation	SNP	C	C	T	rs146743539		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43096945C>T	ENST00000230419.4	+	2	531	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	PTK7_ENST00000349241.2_Missense_Mutation_p.R104W|PTK7_ENST00000352931.2_Missense_Mutation_p.R104W|PTK7_ENST00000476760.1_Missense_Mutation_p.R104W|PTK7_ENST00000481273.1_Missense_Mutation_p.R112W|PTK7_ENST00000345201.2_Missense_Mutation_p.R104W|PTK7_ENST00000471863.1_Missense_Mutation_p.R104W	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	104	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTGTGTGGCTCGGGATGATGT	0.632000													44	26					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134254185	134254185	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:134254185G>C	ENST00000457545.2	+	5	599	c.339G>C	c.(337-339)gaG>gaC	p.E113D	AKR1B15_ENST00000423958.1_Missense_Mutation_p.E85D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	113							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTTTCTTTGAGAGACCCCTTG	0.463000													19	62					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093677	140093677	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:140093677C>G	ENST00000409012.4	-	1	1573	c.1487G>C	c.(1486-1488)cGg>cCg	p.R496P	TPRN_ENST00000321773.2_Missense_Mutation_p.R435P|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	496					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GTTGCTGCCCCGGGGCTGAAG	0.682000													14	62					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155911572	155911572	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:155911572G>A	ENST00000368318.3	+	1	93	c.72G>A	c.(70-72)ctG>ctA	p.L24L		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	24						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCAGTGTGCTGAGTGCTGATG	0.567000													73	65					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42987094	42987094	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:42987094C>G	ENST00000326974.4	+	10	1267	c.1072C>G	c.(1072-1074)Cat>Gat	p.H358D	KLHDC3_ENST00000332245.8_Missense_Mutation_p.H299D|KLHDC3_ENST00000244670.8_Missense_Mutation_p.H224D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	358					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	p.H358D(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGTTTGCCTCATGATATCAG	0.498000													7	299					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3983208	3983208	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:3983208G>T	ENST00000309311.6	-	3	388	c.300C>A	c.(298-300)atC>atA	p.I100I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	100						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGAGGTTGATGAGGAAGC	0.587000													10	21					0.000442599	0.000452307	1	1	0
DRG1	4733	broad.mit.edu	37	22	31799166	31799166	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:31799166C>G	ENST00000331457.4	+	3	479	c.318C>G	c.(316-318)atC>atG	p.I106M	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	106	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CTGGTGTCATCAGATACAAAG	0.463000													18	47					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43421933	43421933	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:43421933G>A	ENST00000187910.2	-	1	77	c.12C>T	c.(10-12)ctC>ctT	p.L4L	PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Silent_p.L4L|PSG6_ENST00000402603.4_Silent_p.L4L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GAGGGGCTGAGAGGGGTCCCA	0.597000													55	57					0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58030413	58030413	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:58030413G>T	ENST00000305783.8	-	9	1288	c.1233C>A	c.(1231-1233)ctC>ctA	p.L411L	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	411						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CAGTTCTGCAGAGTGGACATG	0.333000													5	235					0.000157383	0.000161641	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75055606	75055606	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:75055606G>C	ENST00000326665.5	-	12	2103	c.1885C>G	c.(1885-1887)Cca>Gca	p.P629A	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P432A	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	629	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GACTTTCTTGGCTTATCATTT	0.448000													5	109					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585105	30585105	+	Missense_Mutation	SNP	C	C	G	rs143869401		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:30585105C>G	ENST00000562532.2	+	3	1759	c.1585C>G	c.(1585-1587)Cgc>Ggc	p.R529G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGACTTGCCTCGCAAGAAGTA	0.642000													32	54					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129938623	129938623	+	Missense_Mutation	SNP	G	G	C	rs138137136		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:129938623G>C	ENST00000222482.4	+	2	134	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CPA4_ENST00000445470.2_Missense_Mutation_p.E36Q|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	36					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AAATGGAGACGAGATCAGCAA	0.403000													9	76					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602247	47602247	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:47602247G>A	ENST00000534208.1	+	3	324	c.304G>A	c.(304-306)Gac>Aac	p.D102N	NDUFS3_ENST00000533507.1_3'UTR|NDUFS3_ENST00000534716.2_Intron|NDUFS3_ENST00000528192.1_Intron|NDUFS3_ENST00000263774.4_Intron			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	0					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GGAGTGGGCAGACTTGTTTCA	0.453000													11	5					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3736305	3736305	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:3736305G>A	ENST00000541714.2	+	11	1732	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	TJP3_ENST00000262968.9_Missense_Mutation_p.D457N|TJP3_ENST00000587686.1_Missense_Mutation_p.D443N|TJP3_ENST00000382008.3_Missense_Mutation_p.D438N|TJP3_ENST00000539908.2_Missense_Mutation_p.D388N|TJP3_ENST00000589378.1_Missense_Mutation_p.D433N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	438	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAGGGAGATCAGATTCT	0.682000													5	10					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70764432	70764432	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:70764432C>T	ENST00000373719.3	+	4	695	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.R150C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	160					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTACTGTGTTCGCAGTGACCT	0.398000													4	10					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529943	43529943	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:43529943C>G	ENST00000306846.3	-	10	1523	c.1291G>C	c.(1291-1293)Gac>Cac	p.D431H	PAIP1_ENST00000338972.4_Missense_Mutation_p.D319H|PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.D352H	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	431					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GGAAAAAAGTCCTCTCTTTCA	0.333000													21	200					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47273601	47273601	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:47273601G>A	ENST00000396220.1	-	18	2122	c.2100C>T	c.(2098-2100)ctC>ctT	p.L700L	PREX1_ENST00000371941.3_Silent_p.L700L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	700	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCCACCAGGAGGCGCAGAG	0.632000													3	6					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16632313	16632313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:16632313G>A	ENST00000375592.3	-	3	568	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	118										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGAAGCGCTGAGTGATTGGG	0.453000													31	24					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138886666	138886666	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:138886666G>A	ENST00000370557.1	-	6	1546	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ATP11C_ENST00000327569.3_Silent_p.V176V|ATP11C_ENST00000361648.2_Silent_p.V176V|ATP11C_ENST00000359686.2_Silent_p.V176V|ATP11C_ENST00000370543.1_Silent_p.V176V			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	176					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGGCTGTAGTGACATAACAGG	0.408000													50	169					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104591322	104591322	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:104591322G>C	ENST00000369887.3	-	7	1357	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	396					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AGCGCCCACAGATTGATGATA	0.562000													13	13					0	0	1	0	0
PRR4	11272	broad.mit.edu	37	12	10999868	10999868	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:10999868C>T	ENST00000228811.4	-	3	236	c.199G>A	c.(199-201)Gat>Aat	p.D67N	PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	67	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TGAGGACCATCATCTTGGTTA	0.562000													37	115					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17088067	17088067	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:17088067G>C	ENST00000357277.3	+	11	1455	c.1284G>C	c.(1282-1284)ttG>ttC	p.L428F	REPS2_ENST00000303843.7_Missense_Mutation_p.L427F|REPS2_ENST00000380064.4_Missense_Mutation_p.L288F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	428					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					AACTAGCTTTGAAAAGTACTA	0.274000													3	42					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125920338	125920338	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:125920338G>C	ENST00000447404.2	-	10	1302	c.998C>G	c.(997-999)tCt>tGt	p.S333C	STRBP_ENST00000348403.5_Missense_Mutation_p.S333C|STRBP_ENST00000360998.3_Missense_Mutation_p.S319C			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	333	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AGGCTTACTAGATGGAAGGGG	0.398000													57	52					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183099510	183099510	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:183099510G>C	ENST00000258341.4	+	19	3569	c.3312G>C	c.(3310-3312)caG>caC	p.Q1104H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1104	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCGCCTACAGAGAGTGAATA	0.413000													3	51					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163562	49163562	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:49163562C>G	ENST00000418109.1	-	18	2346	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E728Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	728	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTAAACATCTCTAGCACCAGG	0.592000													8	3					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241797	3241797	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:3241797G>A	ENST00000217939.6	-	5	2083	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	643	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTGTCACTGACTTGGACCT	0.453000													74	56					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491217	110491217	+	Silent	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:110491217T>C	ENST00000324068.1	-	11	1655	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CAPN6_ENST00000541758.1_Silent_p.E241E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	496					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCAGAGTCAGTTCCCTAGAAC	0.433000													34	115					0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1748849	1748849	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:1748849G>C	ENST00000248098.3	+	5	480	c.423G>C	c.(421-423)gaG>gaC	p.E141D	HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.E129D|HN1L_ENST00000562684.1_Missense_Mutation_p.E169D|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382711.5_Missense_Mutation_p.E125D|HN1L_ENST00000569256.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	141						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						AGCCAGGTGAGAAAGGCAGCG	0.632000													17	21					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121215657	121215657	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:121215657G>C	ENST00000264233.5	-	14	2404	c.2276C>G	c.(2275-2277)gCa>gGa	p.A759G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	759					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAACTGACCTGCATAAACAGC	0.333000								DNA polymerases (catalytic subunits)					5	76					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657222	123657222	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:123657222C>G	ENST00000422452.2	-	17	3088	c.3025G>C	c.(3025-3027)Gag>Cag	p.E1009Q	TENM1_ENST00000371130.3_Missense_Mutation_p.E1009Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACCTGCAGCTCAGGAACAATA	0.408000													14	49					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461390	5461390	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:5461390C>T	ENST00000296564.7	+	13	2165	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	648										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCCAGTCTTCTTCTGGGTTA	0.388000													24	146					0	0	1	0	0
PSMB10	5699	broad.mit.edu	37	16	67970132	67970132	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67970132G>A	ENST00000358514.4	-	3	565	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TTTTGGGGGCGATGAAGTGGA	0.627000													43	79					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51065414	51065414	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:51065414T>A	ENST00000402038.3	-	9	835	c.836A>T	c.(835-837)gAg>gTg	p.E279V		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	764					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		AATAATCAACTCAGGATTGAT	0.428000													4	4					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122598872	122598872	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:122598872G>C	ENST00000264357.5	+	13	2525	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	GRIA3_ENST00000371251.1_Missense_Mutation_p.E745Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.E745Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.E745Q	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	745					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGAGTACATTGAGCAGAGAAA	0.483000													3	72					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236334	67236334	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67236334C>G	ENST00000393997.2	+	14	1512	c.1455C>G	c.(1453-1455)ttC>ttG	p.F485L	ELMO3_ENST00000477898.1_Missense_Mutation_p.F319L|ELMO3_ENST00000360833.1_Missense_Mutation_p.F468L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	432					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CACCCATGTTCTTCGGCCAAG	0.592000													28	53					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257640	36257640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:36257640G>A	ENST00000296604.3	-	9	1173	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	RANBP3L_ENST00000515759.1_Nonsense_Mutation_p.Q230*|RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.Q255*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	230					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGTTGAGGCTGGGTGAGTTTT	0.328000													5	178					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149480665	149480665	+	RNA	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:149480665G>A	ENST00000378016.2	+	0	2371							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.D126Y(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGGCTGTGATCCCGGCAG	0.622000													4	53					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406715	140406715	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:140406715G>C	ENST00000286349.3	+	3	1382	c.1191G>C	c.(1189-1191)caG>caC	p.Q397H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	397						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						TCATGGAGCAGATAGAGAATC	0.423000													4	42					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69703905	69703905	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:69703905C>G	ENST00000349945.1	+	9	2665	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	NFAT5_ENST00000393742.2_Missense_Mutation_p.I371M|NFAT5_ENST00000567239.1_Missense_Mutation_p.I465M|NFAT5_ENST00000566899.1_Missense_Mutation_p.I371M|NFAT5_ENST00000432919.1_Missense_Mutation_p.I465M|NFAT5_ENST00000354436.2_Missense_Mutation_p.I447M	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	447	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCCAGAAATCTTAAAGAAAA	0.358000													8	43					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39818134	39818134	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:39818134A>G	ENST00000553728.1	+	27	4019	c.3806A>G	c.(3805-3807)tAt>tGt	p.Y1269C	CTAGE5_ENST00000348007.3_Missense_Mutation_p.Y691C|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.Y659C|CTAGE5_ENST00000396158.2_Missense_Mutation_p.Y739C|CTAGE5_ENST00000557038.1_Missense_Mutation_p.Y654C|CTAGE5_ENST00000396165.4_Missense_Mutation_p.Y705C|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.Y705C|CTAGE5_ENST00000280083.3_Missense_Mutation_p.Y734C|CTAGE5_ENST00000341502.5_Missense_Mutation_p.Y734C|CTAGE5_ENST00000553352.1_Missense_Mutation_p.Y705C|CTAGE5_ENST00000341749.3_Missense_Mutation_p.Y722C																							TCTCGAGATTATTTTCCACCA	0.458000													22	86					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41150087	41150087	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:41150087C>G	ENST00000263413.3	-	16	2595	c.2331G>C	c.(2329-2331)caG>caC	p.Q777H	C6_ENST00000337836.5_Missense_Mutation_p.Q777H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	777	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGATTGTTTCTGTCCCAGCT	0.393000													19	179					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16004835	16004835	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:16004835C>G	ENST00000268712.3	-	20	2676	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	NCOR1_ENST00000395848.1_Missense_Mutation_p.E714Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.E823Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	807					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACAGAACCCTCTTCAGCACTG	0.502000													22	27					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62319338	62319338	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:62319338G>T	ENST00000318100.4	+	18	2357	c.1530G>T	c.(1528-1530)caG>caT	p.Q510H	RTEL1_ENST00000370018.3_Missense_Mutation_p.Q510H|RTEL1_ENST00000508582.2_Missense_Mutation_p.Q534H|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.Q510H|RTEL1_ENST00000360203.5_Missense_Mutation_p.Q510H	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	510					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACAAGCACCAGATCTGGGTGG	0.647000													10	12					0.00010058	0.000103612	1	1	0
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:110737358G>C	ENST00000226796.6	+	2	302	c.38G>C	c.(37-39)cGa>cCa	p.R13P	GAR1_ENST00000394631.3_Missense_Mutation_p.R13P	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	13	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGCTTTAATCGAggtggtgga	0.577000													15	41					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145535801	145535801	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:145535801G>C	ENST00000369304.3	+	16	2164	c.1989G>C	c.(1987-1989)caG>caC	p.Q663H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q532H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q520H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	663					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGTGGTTCAGAGGGACTGTA	0.567000													37	89					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13246324	13246324	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:13246324G>A	ENST00000292431.4	+	2	429	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	101					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TCCTGCTCATGTACACGGCTG	0.622000													3	42					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286608	152286608	+	Missense_Mutation	SNP	C	C	G	rs147854910		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:152286608C>G	ENST00000368799.1	-	3	789	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	252					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTTCTTCTAATAGACTA	0.368000									Ichthyosis				49	105					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156763331	156763331	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:156763331G>C	ENST00000470811.1	+	14	2294	c.959G>C	c.(958-960)aGa>aCa	p.R320T	LEKR1_ENST00000356539.4_Missense_Mutation_p.R624T			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCCTTGCAAGACTGAACTCT	0.517000													35	35					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68089948	68089948	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:68089948G>A	ENST00000262210.5	+	25	3159	c.3128G>A	c.(3127-3129)cGa>cAa	p.R1043Q	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.R698Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1078						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCTAAAGTACGAGAGCAAAGA	0.308000													6	95					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473981	77473981	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:77473981C>G	ENST00000560626.2	-	4	763	c.288G>C	c.(286-288)gaG>gaC	p.E96D	PEAK1_ENST00000312493.4_Missense_Mutation_p.E96D|PEAK1_ENST00000558305.1_Missense_Mutation_p.E96D			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	96					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CAGGTTTGTTCTCACAGTGTT	0.433000													14	53					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569401	53569401	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:53569401C>G	ENST00000025008.5	-	15	3511	c.2988G>C	c.(2986-2988)caG>caC	p.Q996H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q996H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q996H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	996					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGTGCCTAACCTGAAGTGTGT	0.363000													56	140					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76696995	76696995	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:76696995C>G	ENST00000538941.2	-	27	3538	c.2599G>C	c.(2599-2601)Gac>Cac	p.D867H	SCAPER_ENST00000563290.1_Missense_Mutation_p.D1113H|SCAPER_ENST00000324767.7_Missense_Mutation_p.D1113H	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1112						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CACAGTTTGTCAATCAGACCC	0.468000													15	27					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154197620	154197620	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:154197620G>C	ENST00000360256.4	-	7	1195	c.995C>G	c.(994-996)tCt>tGt	p.S332C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	332	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGGTGGGAAGAGATATGACA	0.363000													10	54					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49996992	49996992	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:49996992C>T	ENST00000544141.1	-	3	810	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	FAM186B_ENST00000257894.2_Missense_Mutation_p.E161K|FAM186B_ENST00000551047.1_Missense_Mutation_p.E161K|PRPF40B_ENST00000508736.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	161						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTTGTCCTTCAATGAGAGTG	0.552000													24	30					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922527	89922527	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:89922527G>C	ENST00000378247.3	+	7	1028	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.E329Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	329					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCAGGTCTCTGAGAGGCGGCT	0.682000													7	8					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27031432	27031432	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:27031432G>A	ENST00000376215.5	+	11	1086	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_Missense_Mutation_p.R281K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	345					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTAGTTCCCAGAAATGAATGC	0.348000													6	39					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75684285	75684285	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:75684285G>C	ENST00000315758.5	+	2	298	c.204G>C	c.(202-204)ctG>ctC	p.L68L	MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Silent_p.L68L|MDH2_ENST00000490105.1_3'UTR	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	68					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	CCGCAGATCTGAGCCACATCG	0.582000													5	52					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874726	87874726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:87874726C>T	ENST00000261622.4	-	3	765	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	234					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TTGGTGCCTTCAAATGAGAAG	0.507000													15	22					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478549	79478549	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:79478549C>G	ENST00000575842.1	-	3	893	c.467G>C	c.(466-468)gGa>gCa	p.G156A	ACTG1_ENST00000575087.1_Missense_Mutation_p.G156A|ACTG1_ENST00000573283.1_Missense_Mutation_p.G156A|ACTG1_ENST00000331925.2_Missense_Mutation_p.G156A			P63261	ACTG_HUMAN	actin, gamma 1	156					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)			GACCCCGTCTCCAGAGTCCAT	0.647000													3	47					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77908000	77908000	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:77908000G>C	ENST00000355300.6	-	2	423	c.249C>G	c.(247-249)atC>atG	p.I83M	LINGO1_ENST00000561030.1_Missense_Mutation_p.I77M	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	83					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGAGCGTTTTGATGCGGTTCT	0.652000													6	8					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444172	49444172	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:49444172C>T	ENST00000301067.7	-	11	3198	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTCAGCCTCATCTGAGACC	0.587000													8	11					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56497790	56497790	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:56497790G>C	ENST00000370754.5	-	27	3567	c.3568C>G	c.(3568-3570)Cta>Gta	p.L1190V	DST_ENST00000370765.6_Missense_Mutation_p.L686V|DST_ENST00000312431.6_Missense_Mutation_p.L1012V|DST_ENST00000370788.2_Missense_Mutation_p.L1012V|DST_ENST00000244364.6_Missense_Mutation_p.L686V|DST_ENST00000370769.4_Missense_Mutation_p.L1012V|DST_ENST00000361203.3_Missense_Mutation_p.L1012V|DST_ENST00000518935.1_Missense_Mutation_p.L686V|DST_ENST00000446842.2_Missense_Mutation_p.L686V|DST_ENST00000421834.2_Missense_Mutation_p.L1012V			Q03001	DYST_HUMAN	dystonin	1012					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGAGATTGTAGATTACTTAGA	0.358000													23	54					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4792709	4792709	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:4792709G>A	ENST00000269856.3	+	1	982	c.843G>A	c.(841-843)ctG>ctA	p.L281L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	281					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGAACCACTGAACGGGGAAT	0.617000													9	43					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786664	50786664	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:50786664C>G	ENST00000263046.4	+	1	226	c.60C>G	c.(58-60)gtC>gtG	p.V20V	TFAP2B_ENST00000393655.3_Silent_p.V20V			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	20					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TGGAGAATGTCAAGTACGAAG	0.478000													4	45					0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27076062	27076062	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:27076062G>C	ENST00000262395.5	+	7	1009	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Missense_Mutation_p.E294Q	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	294					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGAGCTGCAGGAGCTTCGGCG	0.612000													7	85					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39726263	39726263	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:39726263C>G	ENST00000246662.4	-	3	795	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	KRT9_ENST00000588431.1_Missense_Mutation_p.E11Q	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	244	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGCTCCATCTCAAACCTGCAG	0.552000													33	66					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31614051	31614051	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:31614051G>C	ENST00000399332.1	-	16	3081	c.2593C>G	c.(2593-2595)Cag>Gag	p.Q865E	HECTD1_ENST00000553700.1_Missense_Mutation_p.Q865E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	865					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GACTCTAACTGAGTTGCTATG	0.378000													8	37					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226692	30226692	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:30226692G>C	ENST00000261708.4	-	2	287	c.150C>G	c.(148-150)ttC>ttG	p.F50L	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	50					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGTCTTCCTTGAAAAGGGTTC	0.333000													6	91					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943391	44943391	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:44943391G>C	ENST00000296125.4	+	8	1007	c.939G>C	c.(937-939)gaG>gaC	p.E313D		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	313			E -> K (in dbSNP:rs1995641).		peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGAATGGCGAGAAAATCACCA	0.498000													20	8					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953139	111953139	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:111953139G>C	ENST00000218789.5	+	19	2382	c.1885G>C	c.(1885-1887)Gag>Cag	p.E629Q	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E655Q|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E570Q|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E645Q|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E570Q			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	398					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCAGAAGAAGAGAAAATTAT	0.373000													14	105					0	0	1	0	0
MIR515-1	574462	broad.mit.edu	37	19	54182275	54182275	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:54182275C>T	ENST00000384884.1	+	0	19					NR_030184.1|NR_030187.1																						AGTCATTCTCCAAAAGAAAGC	0.373000													8	202					0	0	1	0	0
IGKJ4	28947	broad.mit.edu	37	2	89160423	89160423	+	RNA	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:89160423G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKJ4_ENST00000390239.2_RNA																							TGGTCCCTCCGCCGAAAGTGA	0.423000													27	43					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695600	64695600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:64695600G>C	ENST00000164133.2	+	5	1183	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	187					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGTGGCCAAGAGATATGTGG	0.557000													16	77					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107547777	107547777	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:107547777G>C	ENST00000374736.3	-	49	6939	c.6545C>G	c.(6544-6546)tCt>tGt	p.S2182C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2182					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)	AGATAATGAAGATGGAAGCTG	0.453000													26	49					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177617	91177617	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:91177617C>G	ENST00000371795.4	+	2	874	c.661C>G	c.(661-663)Ctg>Gtg	p.L221V	IFIT5_ENST00000416601.1_Missense_Mutation_p.L173V	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	221							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TAAGGTTTTTCTGGCACTGAA	0.428000													42	10					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419301	48419301	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:48419301G>A	ENST00000376771.4	+	6	2346	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	TBC1D25_ENST00000537536.1_Missense_Mutation_p.D415N	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	669						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTCTTTGCTGATTACCTGCA	0.597000													9	23					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487292	63487292	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:63487292A>G	ENST00000377819.5	+	3	1472	c.1318A>G	c.(1318-1320)Atg>Gtg	p.M440V	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.M421V|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.M328V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	440					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCAAGGCAATATGCAGAAACA	0.428000													24	66					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118579511	118579511	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:118579511G>C	ENST00000263239.2	+	6	953	c.825G>C	c.(823-825)atG>atC	p.M275I	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	275	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAGCTGATGACTCACCACG	0.433000													23	50					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036898	39036898	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:39036898C>T	ENST00000167588.3	-	3	639	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	200	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGAGCTAGGTCTTTATTCAGT	0.373000													23	47					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958872	26958872	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:26958872G>T	ENST00000528896.2	-	22	4136	c.4062C>A	c.(4060-4062)gtC>gtA	p.V1354V	KIAA0100_ENST00000389003.3_Silent_p.V1211V|KIAA0100_ENST00000544884.1_Silent_p.V1211V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1354						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCGAGTGAAGACATGGCCCT	0.468000													56	78					1.12612e-26	1.22925e-26	1	1	0
T	6862	broad.mit.edu	37	6	166571941	166571941	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:166571941G>C	ENST00000296946.2	-	9	1638	c.1170C>G	c.(1168-1170)gtC>gtG	p.V390V	T_ENST00000366871.3_Silent_p.V332V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	390					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGGGCGCCGAGACCGGATGGG	0.716000									Chordoma, Familial Clustering of				17	36					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33968979	33968979	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:33968979G>C	ENST00000262325.7	+	12	2074	c.1521G>C	c.(1519-1521)ttG>ttC	p.L507F	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.L507F|AP2B1_ENST00000592545.1_Missense_Mutation_p.L469F|AP2B1_ENST00000538556.1_Missense_Mutation_p.L450F|AP2B1_ENST00000589344.1_Missense_Mutation_p.L507F|AP2B1_ENST00000537622.2_Missense_Mutation_p.L507F	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	507					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCAGGTCTTGAGTTTGGCAA	0.393000													11	53					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202404	39202404	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:39202404G>C	ENST00000351578.6	-	2	849	c.659C>G	c.(658-660)tCt>tGt	p.S220C	FYB_ENST00000505428.1_Missense_Mutation_p.S220C|FYB_ENST00000515010.1_Missense_Mutation_p.S220C|FYB_ENST00000512982.1_Missense_Mutation_p.S220C|FYB_ENST00000540520.1_Missense_Mutation_p.S230C	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	220					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTTTGATGAAGACACATTCTT	0.542000													27	193					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881350	33881350	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:33881350C>G	ENST00000504830.1	-	2	698	c.363G>C	c.(361-363)aaG>aaC	p.K121N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K121N|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.K121N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	121					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCATATCTCTTCTCCATGA	0.493000										HNSCC(64;0.19)			14	150					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24444280	24444280	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:24444280G>C	ENST00000382172.3	-	6	756	c.658C>G	c.(658-660)Ctt>Gtt	p.L220V		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	220					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GTTCCCATAAGAAATGTACTA	0.368000													6	67					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711214	15711214	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:15711214C>G	ENST00000396368.3	-	14	3105	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q	KIAA0430_ENST00000548025.1_Missense_Mutation_p.E964Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E964Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E609Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E967Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E802Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	966						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTAACTCTTCAAATATAATT	0.488000													21	43					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77754343	77754343	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:77754343G>C	ENST00000407578.2	-	34	5318	c.5052C>G	c.(5050-5052)ttC>ttG	p.F1684L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.F1646L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F1646L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTGGGAGGAGAAGAGTTCAT	0.468000													11	100					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411547	23411547	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:23411547G>A	ENST00000379361.4	+	3	2772	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	638					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAAATACAATGATGAGGTCGA	0.403000													111	115					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128982814	128982814	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:128982814A>G	ENST00000314797.6	+	13	1300	c.1196A>G	c.(1195-1197)aAc>aGc	p.N399S		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	399					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GTCCTTATGAACTTCCTGTTC	0.562000													30	37					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315777	125315777	+	Missense_Mutation	SNP	C	C	G	rs150868171		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:125315777C>G	ENST00000373688.2	+	1	387	c.329C>G	c.(328-330)tCg>tGg	p.S110W		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGATCATCTCGTATTCTGGG	0.483000													12	113					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200453	92200453	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:92200453C>T	ENST00000212355.4	-	5	913	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.E150K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E150K	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	150					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AAGTTCCTTTCTTCTGTTTCT	0.428000													6	119					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37350278	37350278	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:37350278G>A	ENST00000231498.3	-	7	1016	c.813C>T	c.(811-813)ttC>ttT	p.F271F	NUP155_ENST00000381843.2_Silent_p.F212F|NUP155_ENST00000513532.1_Silent_p.F271F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	271					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAGAACGTGAATTGTAGCA	0.358000													31	152					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2115600	2115600	+	Silent	SNP	G	G	A	rs137854159		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:2115600G>A	ENST00000219476.3	+	16	2310	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	TSC2_ENST00000350773.4_Silent_p.V560V|TSC2_ENST00000568454.1_Silent_p.V571V|TSC2_ENST00000401874.2_Silent_p.V560V|TSC2_ENST00000439673.2_Silent_p.V523V|TSC2_ENST00000382538.6_Silent_p.V511V|TSC2_ENST00000353929.4_Silent_p.V560V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	560					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAGGATGTGAAGACAGCCG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				8	96					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817960	22817960	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:22817960C>G	ENST00000404138.1	+	4	1276	c.765C>G	c.(763-765)ctC>ctG	p.L255L	ZBTB40_ENST00000375647.4_Silent_p.L255L|ZBTB40_ENST00000374651.4_Silent_p.L255L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	255					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGATGCACTCATGGTTACCC	0.358000													30	53					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136323277	136323277	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:136323277C>G	ENST00000383202.2	-	4	427	c.171G>C	c.(169-171)aaG>aaC	p.K57N	STAG1_ENST00000480733.1_Missense_Mutation_p.K57N|STAG1_ENST00000236698.5_Missense_Mutation_p.K57N|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	57					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAATTCTGCTCTTCTCACCTG	0.398000													20	86					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115589294	115589294	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:115589294G>A	ENST00000310836.6	+	5	1618	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	UGT8_ENST00000394511.3_Missense_Mutation_p.E366K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	366					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAGTATTTTTGAAACTATATA	0.383000													12	71					0	0	1	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30521509	30521509	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:30521509G>C	ENST00000399935.2	+	8	737		c.e8-1		MAP3K7CL_ENST00000545939.1_Splice_Site|MAP3K7CL_ENST00000339024.4_Splice_Site|MAP3K7CL_ENST00000399928.1_Splice_Site|MAP3K7CL_ENST00000399934.1_Splice_Site|MAP3K7CL_ENST00000399925.1_Splice_Site|MAP3K7CL_ENST00000399947.2_Splice_Site|MAP3K7CL_ENST00000341618.4_Splice_Site|MAP3K7CL_ENST00000399926.1_Splice_Site|MAP3K7CL_ENST00000286791.5_Splice_Site					MAP3K7 C-terminal like																		CCTTGTTTTAGATGATACACC	0.413000													14	134					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56278983	56278983	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:56278983G>C	ENST00000361673.3	-	2	260	c.47C>G	c.(46-48)tCt>tGt	p.S16C		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	16	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGCAATGTAGATAAAAAACA	0.453000													13	43					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3969722	3969722	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:3969722G>C	ENST00000545797.2	-	2	255	c.12C>G	c.(10-12)ttC>ttG	p.F4L	DAPK3_ENST00000301264.3_Missense_Mutation_p.F4L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	4					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTGCCTGAACGTGGACA	0.637000											OREG0025158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	26					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085619	53085619	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:53085619G>A	ENST00000540331.1	+	5	730	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ZNF701_ENST00000301093.2_Missense_Mutation_p.E169K|ZNF701_ENST00000391785.3_Missense_Mutation_p.E103K|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCAGTGGCAAGAAAATGAAAC	0.393000													7	69					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47698196	47698196	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:47698196C>T	ENST00000406134.1	+	11	1816	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	MSH2_ENST00000543555.1_Missense_Mutation_p.S519F|MSH2_ENST00000233146.2_Missense_Mutation_p.S585F			P43246	MSH2_HUMAN	mutS homolog 2	585					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTCAATATTTCTTCAGGTAAA	0.299000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	65					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40769524	40769524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:40769524G>T	ENST00000397128.2	-	5	598	c.590C>A	c.(589-591)tCa>tAa	p.S197*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.S212*|PRKAA1_ENST00000296800.4_Nonsense_Mutation_p.S188*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	197	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTACCTTCCTGAAATTACTTC	0.353000													27	269					1.13719e-10	1.21672e-10	1	1	0
C9orf84	158401	broad.mit.edu	37	9	114521556	114521556	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:114521556G>C	ENST00000394779.3	-	1	257	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	C9orf84_ENST00000374283.5_Intron|C9orf84_ENST00000318737.4_Intron|C9orf84_ENST00000394777.4_Missense_Mutation_p.L5V|C9orf84_ENST00000374287.3_Intron	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	0										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATCCCCCAGAGTCTCTGAC	0.353000													13	47					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435145	35435145	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:35435145G>A	ENST00000439785.1	+	5	1722	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	ZNF30_ENST00000303586.7_Silent_p.E426E|ZNF30_ENST00000426813.2_Silent_p.E344E|ZNF30_ENST00000601142.1_Silent_p.E425E|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ATACTGGGGAGAAACCCTATG	0.463000													15	12					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132222059	132222059	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:132222059G>C	ENST00000265343.5	-	18	3421	c.3042C>G	c.(3040-3042)ttC>ttG	p.F1014L		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1014					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTCAGTTTGAACAGCCTCA	0.478000													23	110					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085079	64085079	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:64085079C>T	ENST00000295902.6	-	8	2768	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784H|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTCCGCTGGCGCATAAATTG	0.612000													5	43					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96278456	96278456	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:96278456G>C	ENST00000277165.6	+	7	1517	c.1323G>C	c.(1321-1323)caG>caC	p.Q441H	FAM120A_ENST00000375389.3_Missense_Mutation_p.Q441H|FAM120A_ENST00000333936.5_Missense_Mutation_p.Q441H|FAM120A_ENST00000340893.4_Missense_Mutation_p.Q441H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	441						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCCGGCCCAGAGCGGCAGCC	0.607000													24	35					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103281034	103281034	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:103281034G>C	ENST00000424685.2	-	17	2184	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	RELN_ENST00000343529.5_Silent_p.L675L|RELN_ENST00000428762.1_Silent_p.L675L			P78509	RELN_HUMAN	reelin	675	EGF-like 1.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACAGAATTTGAGACATGACG	0.363000													40	13					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102221618	102221618	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:102221618G>A	ENST00000227758.2	+	3	2338	c.939G>A	c.(937-939)ttG>ttA	p.L313L	BIRC2_ENST00000530675.1_Silent_p.L264L|BIRC2_ENST00000532672.1_Silent_p.L292L|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	313					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGTGGCTTGAGGTGTTGGG	0.353000													5	188					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40137689	40137689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:40137689C>A	ENST00000235628.1	-	1	21	c.22G>T	c.(22-24)Gag>Tag	p.E8*		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	8					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCTGGGGCTCCCGGGGCTGC	0.726000													14	10					6.94344e-10	7.37516e-10	1	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537102	5537102	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:5537102G>A	ENST00000380184.1	-	1	833	c.570C>T	c.(568-570)ttC>ttT	p.F190F	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	190										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)		ACTGCCACATGAACTCCATGT	0.473000													8	129					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942319	6942319	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:6942319C>G	ENST00000317834.3	+	1	115	c.87C>G	c.(85-87)atC>atG	p.I29M		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAGTTTATCTTCCTGGGTC	0.408000													13	40					0	0	1	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929308	40929308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:40929308G>T	ENST00000357949.4	-	2	304	c.146C>A	c.(145-147)tCa>tAa	p.S49*		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	49	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGAGCACTGAGAGGTCAAA	0.647000													5	16					0.000602214	0.000614199	1	1	0
USH1C	10083	broad.mit.edu	37	11	17552802	17552802	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:17552802C>T	ENST00000005226.7	-	4	285	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	USH1C_ENST00000318024.4_Missense_Mutation_p.E96K|USH1C_ENST00000527720.1_Missense_Mutation_p.E65K|USH1C_ENST00000527020.1_Missense_Mutation_p.E96K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	96	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCGAGGCCTTCGGGGTGCAGA	0.652000													16	2					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134836	81134836	+	RNA	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:81134836G>C	ENST00000534142.1	-	0	1659				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TAATGCCCAGGAAACTGAGTA	0.527000													10	23					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58003876	58003876	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:58003876C>T	ENST00000225577.4	+	5	483	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RPS6KB1_ENST00000443572.2_Silent_p.F131F|RPS6KB1_ENST00000406116.3_Silent_p.F154F|RPS6KB1_ENST00000393021.3_Silent_p.F101F	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	154	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGCATCCCTTCATCGTGGATT	0.383000													9	129					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298105	75298105	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:75298105C>G	ENST00000304771.3	-	4	3191	c.2441G>C	c.(2440-2442)tGa>tCa	p.*814S	MAP6_ENST00000526740.1_Nonstop_Mutation_p.*485S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	0						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGTGAGTGTCAAGGGGAGCT	0.527000													14	44					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279390	1279390	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:1279390C>A	ENST00000447027.1	+	42	16579	c.16521C>A	c.(16519-16521)atC>atA	p.I5507I	MUC5B_ENST00000529681.1_Silent_p.I5504I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5504					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGAGTCCATCTGCACCCAGG	0.701000													5	2					0.00116845	0.00118697	1	1	0
KLRC2	3822	broad.mit.edu	37	12	10587972	10587972	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:10587972G>C	ENST00000381902.2	-	2	231	c.225C>G	c.(223-225)gtC>gtG	p.V75V	KLRC2_ENST00000381901.1_Silent_p.V75V|NKG2-E_ENST00000539033.1_Silent_p.V75V|KLRC2_ENST00000536833.2_Silent_p.V16V	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	75					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TGATTCCTAGGACCTCGGCAG	0.428000													34	79					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140409818	140409818	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:140409818G>C	ENST00000286349.3	+	4	2060	c.1869G>C	c.(1867-1869)tgG>tgC	p.W623C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	623	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						AGGTTTACTGGACATGTCCAG	0.403000													23	54					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153911438	153911438	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:153911438C>G	ENST00000361217.4	-	13	2321	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	635	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAAGAGCACTCCTCAATGAAC	0.493000													10	9					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120527845	120527845	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:120527845G>T	ENST00000397558.2	+	8	1530	c.1530G>T	c.(1528-1530)ctG>ctT	p.L510L	CCDC64_ENST00000446727.2_Silent_p.L181L|CCDC64_ENST00000257583.4_Silent_p.L207L	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	510					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCAGAAACTGAACCTCTCGC	0.532000													16	24					6.72482e-11	7.20266e-11	1	1	0
NDST3	9348	broad.mit.edu	37	4	118975531	118975531	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:118975531G>C	ENST00000296499.5	+	2	869	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	NDST3_ENST00000433996.2_Missense_Mutation_p.E156Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	156	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATACTGTGTAGAATATGGTGT	0.328000													13	39					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518209	156518209	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:156518209G>T	ENST00000361170.2	-	18	2074	c.2064C>A	c.(2062-2064)ttC>ttA	p.F688L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	688					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATCCCCTGGAAGGTCTGCA	0.562000													34	28					1.30293e-26	1.41924e-26	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88690604	88690604	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:88690604G>C	ENST00000394480.2	-	6	747	c.426C>G	c.(424-426)ctC>ctG	p.L142L	NTRK3_ENST00000317501.3_Silent_p.L142L|NTRK3_ENST00000558676.1_Silent_p.L142L|NTRK3_ENST00000542733.2_Silent_p.L44L|NTRK3_ENST00000360948.2_Silent_p.L142L|NTRK3_ENST00000355254.2_Silent_p.L142L|NTRK3_ENST00000357724.2_Silent_p.L142L|NTRK3_ENST00000540489.2_Silent_p.L142L|NTRK3_ENST00000557856.1_Silent_p.L142L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGCCACGAGAGTGTGGTGA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			16	25					0	0	1	0	0
FAM162A	26355	broad.mit.edu	37	3	122126241	122126241	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:122126241G>A	ENST00000469967.1	+	4	445	c.377G>A	c.(376-378)aGa>aAa	p.R126K	FAM162A_ENST00000232125.5_Intron|FAM162A_ENST00000477892.1_Intron			Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	0						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AAGAAGGTGAGAAGGGGTTTC	0.453000													4	26					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801086	9801086	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:9801086C>T	ENST00000457674.2	-	5	1611	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCCACATTCAACACATCCA	0.393000													4	45					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991023	144991023	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:144991023G>A	ENST00000322810.4	-	32	13546	c.13377C>T	c.(13375-13377)atC>atT	p.I4459I	PLEC_ENST00000527096.1_Silent_p.I4345I|PLEC_ENST00000357649.2_Silent_p.I4326I|PLEC_ENST00000354958.2_Silent_p.I4300I|PLEC_ENST00000354589.3_Silent_p.I4322I|PLEC_ENST00000356346.3_Silent_p.I4308I|PLEC_ENST00000436759.2_Silent_p.I4349I|PLEC_ENST00000398774.2_Silent_p.I4290I|PLEC_ENST00000345136.3_Silent_p.I4322I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4459	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTGGGGTCGATGATGCCCC	0.647000													48	64					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164054328	164054328	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:164054328G>C	ENST00000274054.2	-	7	1204	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	NAF1_ENST00000422287.2_Silent_p.L337L|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	337					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCAGATTTGAGTTTTTTCC	0.313000													3	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413832	179413832	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:179413832C>G	ENST00000589042.1	-	339	92745	c.92521G>C	c.(92521-92523)Gaa>Caa	p.E30841Q	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21901Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29200Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21968Q|TTN_ENST00000342992.6_Missense_Mutation_p.E28273Q|TTN_ENST00000460472.2_Missense_Mutation_p.E21776Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29200	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGACCATTCTAAGCTCACA	0.448000													28	50					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637103	45637103	+	Silent	SNP	C	C	T	rs143560083		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:45637103C>T	ENST00000273317.4	+	1	753	c.732C>T	c.(730-732)ctC>ctT	p.L244L	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.L244L	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	244					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGGGTAGCCTCGGTGGTCAGA	0.647000													14	19					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985341	140985341	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:140985341G>A	ENST00000544766.1	+	5	1430	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000443323.2_Silent_p.Q221Q|MAGEC3_ENST00000536088.1_Silent_p.Q301Q|MAGEC3_ENST00000409007.1_Silent_p.Q301Q	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	23	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGGTGCAGAGAAAGTACC	0.517000													16	65					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67250581	67250581	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:67250581C>T	ENST00000392676.3	-	32	4183	c.4119G>A	c.(4117-4119)ctG>ctA	p.L1373L	ABCA5_ENST00000392677.2_Silent_p.L1374L|ABCA5_ENST00000588877.1_Silent_p.L1373L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1373	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATACACTTCAGTGAATCAT	0.343000													59	16					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159333	118159333	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:118159333A>G	ENST00000427715.2	+	5	499	c.65A>G	c.(64-66)aAg>aGg	p.K22R	SLC30A8_ENST00000521243.1_Missense_Mutation_p.K22R|SLC30A8_ENST00000519688.1_Missense_Mutation_p.K22R|SLC30A8_ENST00000456015.2_Missense_Mutation_p.K71R	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	71					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCCTATGCCAAGTGGAAACTC	0.493000													28	119					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64425908	64425908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:64425908C>G	ENST00000410046.3	+	7	1520	c.1240C>G	c.(1240-1242)Caa>Gaa	p.Q414E	ZNF365_ENST00000395249.1_Missense_Mutation_p.Q20E|ZNF365_ENST00000395251.1_Missense_Mutation_p.Q168E	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	168										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCTACAAGTCAAAGCAGGAA	0.378000													5	23					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352237	15352237	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:15352237C>T	ENST00000344693.5	-	0	521					NR_027270.1																						GTGGTGACTTCTCAGACTCCC	0.622000													7	8					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298877	75298877	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:75298877C>G	ENST00000304771.3	-	4	2419	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	MAP6_ENST00000526740.1_Missense_Mutation_p.E228Q|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	557	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTTAGAGACTCTGGTACCACA	0.507000													39	80					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79199812	79199812	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:79199812G>A	ENST00000264895.6	+	10	1425	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E329K|FRAS1_ENST00000264899.6_Missense_Mutation_p.E329K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	329	VWFC 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTACAGGATGAAGAATTAAT	0.388000													8	41					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911757	32911757	+	Missense_Mutation	SNP	C	C	G	rs80358573		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:32911757C>G	ENST00000544455.1	+	11	3492	c.3265C>G	c.(3265-3267)Cag>Gag	p.Q1089E	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q1089E	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1089					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAACCCCTCAGATGTTATT	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			22	63					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43191853	43191853	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43191853G>C	ENST00000252050.4	+	40	7389	c.7305G>C	c.(7303-7305)caG>caC	p.Q2435H	CUL9_ENST00000354495.3_Missense_Mutation_p.Q2325H|CUL9_ENST00000372647.2_Missense_Mutation_p.Q2407H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2435					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTGGTCTTCAGAGTCCATCAG	0.572000													130	81					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24444281	24444281	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:24444281A>T	ENST00000382172.3	-	6	755	c.657T>A	c.(655-657)ttT>ttA	p.F219L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	219					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTCCCATAAGAAATGTACTAC	0.363000													5	67					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806692	97806692	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:97806692G>C	ENST00000358642.2	+	1	676	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGTGCTCTTTGATATTCTGAA	0.378000													3	46					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931591	116931591	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:116931591A>C	ENST00000537345.1	+	7	1067	c.704A>C	c.(703-705)aAc>aCc	p.N235T	ATP1A1_ENST00000369496.4_Missense_Mutation_p.N204T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.N235T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	235					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ACAAATGAAAACCCCCTGGAG	0.448000													13	94					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463575	44463575	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:44463575G>C	ENST00000372310.3	-	13	1824	c.1659C>G	c.(1657-1659)ctC>ctG	p.L553L	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.L572L|SLC6A9_ENST00000360584.2_Silent_p.L626L|SLC6A9_ENST00000475075.2_Silent_p.L442L|SLC6A9_ENST00000372306.3_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	626						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACATGGCGTAGAGGGGGATGC	0.642000													6	21					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31610457	31610457	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:31610457G>A	ENST00000446923.2	+	1	394	c.3G>A	c.(1-3)atG>atA	p.M1I	ZEB1_ENST00000361642.5_Intron|ZEB1_ENST00000320985.10_Intron|ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000559858.1_Intron|ZEB1_ENST00000542815.3_Intron	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	0					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGGCTTTATGAAAGGTAAGT	0.413000													10	120					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419899	5419899	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:5419899C>T	ENST00000540638.2	-	12	1750	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	EPB41L3_ENST00000341928.2_Intron|EPB41L3_ENST00000400111.3_Missense_Mutation_p.M457I|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.M457I|EPB41L3_ENST00000542652.2_5'UTR	NM_001281534.1	NP_001268463.1	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	446	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAGAATCCTTCATGTATATTT	0.393000													63	20					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79199884	79199884	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:79199884G>A	ENST00000264895.6	+	10	1497	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	FRAS1_ENST00000325942.6_Missense_Mutation_p.E353K|FRAS1_ENST00000264899.6_Missense_Mutation_p.E353K	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	353	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTTTATGAAGAAACTGGAGA	0.333000													4	40					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28116078	28116078	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:28116078C>A	ENST00000373943.4	+	2	249	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	42					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGCTGCTCAGATAAAGAA	0.398000													16	8					3.52763e-06	3.67462e-06	1	1	0
BRCA1	672	broad.mit.edu	37	17	41242998	41242998	+	Nonsense_Mutation	SNP	G	G	C	rs80357071		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:41242998G>C	ENST00000309486.4	-	10	4287	c.3260C>G	c.(3259-3261)tCa>tGa	p.S1087*	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.S241*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.S1336*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.S280*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.S1383*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.S280*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.S1383*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.S200*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.S1383*|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.S1383*	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1383					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGATAGCCCTGAGCAGTCTTC	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	16					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231065663	231065663	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:231065663G>A	ENST00000258381.6	-	10	1144	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	SP110_ENST00000338556.3_Missense_Mutation_p.S58L|SP110_ENST00000258382.5_Missense_Mutation_p.S356L|SP110_ENST00000540870.1_Missense_Mutation_p.S362L|SP110_ENST00000358662.4_Missense_Mutation_p.S356L|SP110_ENST00000392048.3_Missense_Mutation_p.S354L	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	356					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATTCATTTCTGAAGTGCCATC	0.473000													16	72					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447916	96447916	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:96447916G>C	ENST00000285979.6	+	3	565	c.366G>C	c.(364-366)gaG>gaC	p.E122D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E122D	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GATGGAAGGAGATCCGGCGTT	0.517000													31	37					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66821897	66821897	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:66821897G>C	ENST00000307897.5	+	12	1521	c.1141G>C	c.(1141-1143)Gat>Cat	p.D381H	ZWILCH_ENST00000565627.1_Missense_Mutation_p.D267H|ZWILCH_ENST00000535141.2_Missense_Mutation_p.D267H|ZWILCH_ENST00000446801.2_Missense_Mutation_p.D267H	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	381					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						ACAACGTGGTGATATACAGCC	0.423000													28	16					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177102	91177102	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:91177102C>T	ENST00000371795.4	+	2	359	c.146C>T	c.(145-147)tCt>tTt	p.S49F	IFIT5_ENST00000416601.1_Missense_Mutation_p.S49F	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	49							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACCACAAAATCTAGACTTGCT	0.363000													40	12					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159832291	159832291	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:159832291G>C	ENST00000368100.1	-	1	156	c.21C>G	c.(19-21)ttC>ttG	p.F7L	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	7						integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GTAGAAGGTGGAATGCTCCTC	0.627000													7	68					0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30036411	30036411	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:30036411G>C	ENST00000376772.3	+	2	437	c.114G>C	c.(112-114)gaG>gaC	p.E38D	PPP1R11_ENST00000376773.1_5'UTR|PPP1R11_ENST00000376763.1_5'UTR|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376758.1_5'UTR|PPP1R11_ENST00000376765.2_5'UTR	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	38						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GGAAGCCAGAGAAAAAGGTAG	0.493000													5	79					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183840	61183840	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:61183840C>T	ENST00000340437.4	-	6	911	c.831G>A	c.(829-831)ctG>ctA	p.L277L	CPSF7_ENST00000448745.1_Silent_p.L225L|CPSF7_ENST00000394888.4_Silent_p.L234L|CPSF7_ENST00000439958.3_Silent_p.L225L	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	234	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GCAGACCCATCAGGGGAAGGG	0.602000													44	24					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64706408	64706408	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:64706408C>A	ENST00000261884.3	+	8	1228	c.1168C>A	c.(1168-1170)Cag>Aag	p.Q390K		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	390					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTCCCCTCCCCAGGTTAGTGG	0.433000													4	71					0.150653	0.151096	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17305414	17305414	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:17305414G>A	ENST00000595618.1	+	22	3330	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	MYO9B_ENST00000397274.2_Missense_Mutation_p.E1060K|MYO9B_ENST00000594824.1_Missense_Mutation_p.E1060K	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1060	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAAGGAGAGGGAAGCCCTGGA	0.607000													9	21					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108738	93108738	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:93108738G>T	ENST00000359558.2	-	5	486	c.187C>A	c.(187-189)Cga>Aga	p.R63R	CALCR_ENST00000421592.1_Silent_p.R45R|CALCR_ENST00000394441.1_Silent_p.R45R|CALCR_ENST00000360249.4_Silent_p.R45R|CALCR_ENST00000426151.1_Silent_p.R45R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	45					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R45*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398000													14	141					3.45872e-05	3.58824e-05	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26761388	26761388	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:26761388C>A	ENST00000529632.2	+	13	2846	c.2650C>A	c.(2650-2652)Caa>Aaa	p.Q884K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q884K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q657K|SEZ6L_ENST00000411842.2_Missense_Mutation_p.Q81K|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q820K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q884K|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000494013.1_3'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	884	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAATGGATACCAAATCCTGTA	0.527000													7	137					0.248553	0.248795	1	1	0
MACF1	23499	broad.mit.edu	37	1	39893212	39893212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:39893212G>C	ENST00000564288.1	+	62	17179	c.16402G>C	c.(16402-16404)Gag>Cag	p.E5468Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E3406Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3908Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E5505Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3385Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3406Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3406Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5473Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5473					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCTGTCACAGAGAAAAAGCT	0.433000													17	103					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815128	2815128	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:2815128G>C	ENST00000301740.8	+	11	5148	c.4599G>C	c.(4597-4599)ctG>ctC	p.L1533L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1533	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGACTCCCCTGGGGCAGAGAA	0.502000													37	40					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94517753	94517753	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:94517753C>T	ENST00000330836.5	-	9	2495	c.2364G>A	c.(2362-2364)ctG>ctA	p.L788L	DDX24_ENST00000555054.1_Silent_p.L745L|DDX24_ENST00000544005.1_Silent_p.L538L|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	788					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCTCCTTCTTCAGAACCTTCA	0.493000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	88					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74056446	74056446	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:74056446G>A	ENST00000307877.2	-	7	941	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SRP68_ENST00000355113.5_Silent_p.L159L|SRP68_ENST00000539137.1_Silent_p.L222L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCATCTGCATGAGTTCATTGA	0.423000													7	67					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50095429	50095429	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:50095429G>A	ENST00000443081.1	+	9	2485	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Silent_p.E654E|RBM6_ENST00000442092.1_Silent_p.E132E|RBM6_ENST00000422955.1_Silent_p.E132E			P78332	RBM6_HUMAN	RNA binding motif protein 6	654	RRM.				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGATGGAGAGAGCAAAAGTA	0.502000													7	2					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595450	216595450	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:216595450G>C	ENST00000366943.2	-	2	615	c.229C>G	c.(229-231)Cag>Gag	p.Q77E	USH2A_ENST00000366942.3_Missense_Mutation_p.Q77E|USH2A_ENST00000307340.3_Missense_Mutation_p.Q77E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	77					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACAGAACTGAATACTTTCA	0.498000										HNSCC(13;0.011)			11	16					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105601101	105601101	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:105601101C>G	ENST00000276654.5	-	1	133	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	LRP12_ENST00000424843.2_Missense_Mutation_p.E9Q	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	9					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGCGGAGACTCTTTTGTGCTC	0.622000													6	9					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14861749	14861749	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:14861749C>T	ENST00000398334.1	-	10	2787	c.2520G>A	c.(2518-2520)ttG>ttA	p.L840L	FANCB_ENST00000324138.3_Silent_p.L840L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	840					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CAGCTACTTTCAAAGTTATTT	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				66	171					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766332	56766332	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:56766332C>G	ENST00000413728.2	-	9	1723	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D388H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D388H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D359H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D420H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D394H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	388	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCCTGGAGGTCTTCCAGCAGG	0.552000													9	58					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2331115	2331115	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:2331115C>A	ENST00000301732.5	-	28	4972	c.4272G>T	c.(4270-4272)acG>acT	p.T1424T	ABCA3_ENST00000382381.3_Silent_p.T1366T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1424	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTTGAAAGTCGTGGTCTTCC	0.622000													7	50					0.0477658	0.048047	1	1	0
E2F8	79733	broad.mit.edu	37	11	19259625	19259625	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:19259625C>G	ENST00000527884.1	-	3	302	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	E2F8_ENST00000250024.4_Missense_Mutation_p.E24Q|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	24					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGTGGATTCTTTCAGAGGT	0.428000													8	33					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819188	17819188	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:17819188C>T	ENST00000545871.1	-	3	1403	c.943G>A	c.(943-945)Gag>Aag	p.E315K	RAI2_ENST00000331511.1_Missense_Mutation_p.E315K|RAI2_ENST00000451717.1_Missense_Mutation_p.E315K|RAI2_ENST00000415486.3_Missense_Mutation_p.E265K|RAI2_ENST00000360011.1_Missense_Mutation_p.E315K	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	315					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCCAGGGCCTCGTTCTCACTT	0.547000													83	92					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154548288	154548288	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:154548288C>T	ENST00000368476.3	+	6	1653	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	463					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCCTCTTCCTCTGGATCTTTG	0.562000													44	86					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27012150	27012150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:27012150G>C	ENST00000215939.2	-	2	264	c.134C>G	c.(133-135)cCt>cGt	p.P45R		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	45	N-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCTGGTAATAGGCACGGTTGT	0.642000													31	31					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77229455	77229455	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:77229455G>A	ENST00000248248.3	+	5	1669	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MON1B_ENST00000439557.2_Missense_Mutation_p.S331N|MON1B_ENST00000545553.1_Missense_Mutation_p.S294N|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	440							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCCCCTACAGCAGAGAGGAG	0.632000													7	22					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	45879351	45879351	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:45879351C>T	ENST00000306156.3	+	1	439	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	38	C2.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GACTTTCCTTCTCGACCCCTA	0.612000													5	51					0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131687	21131687	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:21131687G>A	ENST00000601023.1	+	2	836	c.190G>A	c.(190-192)Gag>Aag	p.E64K	ZNF85_ENST00000328178.8_Missense_Mutation_p.E123K|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.E90K			Q03923	ZNF85_HUMAN	zinc finger protein 85	123	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGTATGGATGAGTGTAAGAT	0.338000													9	77					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972100	56972100	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:56972100C>G	ENST00000591790.1	-	3	1546	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	ZNF667_ENST00000292069.6_Missense_Mutation_p.E40Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.E133Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.E40Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATGACATCTTCATACAAATCC	0.483000													30	34					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67434996	67434996	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67434996G>A	ENST00000348579.2	-	4	633	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	98						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ACGGCGGTCAGGTGCACCACA	0.617000													4	60					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58368262	58368262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:58368262C>G	ENST00000463280.1	+	2	215	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	PXK_ENST00000484288.1_Missense_Mutation_p.L75V|PXK_ENST00000383715.4_Missense_Mutation_p.L58V|PXK_ENST00000356151.2_Missense_Mutation_p.L75V|PXK_ENST00000479241.1_Missense_Mutation_p.L58V|PXK_ENST00000383716.3_Missense_Mutation_p.L42V|PXK_ENST00000302779.5_Missense_Mutation_p.L58V|PXK_ENST00000536660.1_Intron			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	75	PX.			R -> G (in Ref. 3; AAK94455 and 6; BAA91097).	cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAGTCTACCTCTTCCTCCCAA	0.333000													10	38					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301163	77301163	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:77301163G>T	ENST00000313578.3	+	1	484	c.126G>T	c.(124-126)ccG>ccT	p.P42P	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	42						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TGCACAGGCCGGTGGCCCACG	0.677000													10	12					0.00621372	0.00628112	1	1	0
DSG4	147409	broad.mit.edu	37	18	28989425	28989425	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:28989425C>G	ENST00000359747.4	+	13	1973	c.1944C>G	c.(1942-1944)ctC>ctG	p.L648L	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.L648L|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	648					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGCTCCACTCTTGCTGCTCC	0.517000													7	85					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440250	99440250	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:99440250G>A	ENST00000287042.4	+	2	393	c.43G>A	c.(43-45)Gag>Aag	p.E15K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E15K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	15						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGCTAACGTCGAGGACGGGGA	0.711000													9	10					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705370	189705370	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:189705370G>A	ENST00000319332.5	-	5	1241	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	LEPREL1_ENST00000427335.2_Silent_p.Y167Y	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	348					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GACTCTCATAGTAATCCACAT	0.408000													29	48					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21598305	21598305	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:21598305G>C	ENST00000240651.9	+	3	244	c.190G>C	c.(190-192)Gat>Cat	p.D64H	PYROXD1_ENST00000545178.1_Missense_Mutation_p.D64H|PYROXD1_ENST00000538582.1_5'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	64							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GGAAGAATTCGATGTTGAAGA	0.289000													7	49					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337822	12337822	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:12337822G>A	ENST00000358136.3	+	19	4307	c.4177G>A	c.(4177-4179)Ggg>Agg	p.G1393R	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1393R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1393					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCGGAAGCCGGGGAGTCCTGA	0.448000													10	44					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	845804	845804	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:845804C>G	ENST00000317063.6	+	19	2922	c.2922C>G	c.(2920-2922)ctC>ctG	p.L974L	CHTF18_ENST00000262315.9_Silent_p.L765L|CHTF18_ENST00000455171.2_Silent_p.L793L			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	765					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCTGCCTGCTCCTGGACATTC	0.677000													5	14					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578847	9578847	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:9578847G>C	ENST00000301480.4	-	10	989	c.776C>G	c.(775-777)tCt>tGt	p.S259C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCTTATGGTAGAGGTTTTATT	0.373000													8	95					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168319586	168319586	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:168319586G>C	ENST00000366806.2	+	20	3002	c.2860G>C	c.(2860-2862)Gaa>Caa	p.E954Q	MLLT4_ENST00000344191.4_Missense_Mutation_p.E954Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E938Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.E953Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E961Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E954Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.E954Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	954					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGGTTTACAAGAATTTTTAGA	0.438000			T	MLL	AL								11	23					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685841	100685841	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:100685841C>G	ENST00000306151.4	+	3	11208	c.11144C>G	c.(11143-11145)tCa>tGa	p.S3715*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3715	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCCTTTCAACACCTTCT	0.512000													24	104					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12616427	12616427	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:12616427C>G	ENST00000170447.7	+	5	916	c.779C>G	c.(778-780)tCc>tGc	p.S260C	MKRN2_ENST00000448482.1_Missense_Mutation_p.S258C|MKRN2_ENST00000411987.1_Missense_Mutation_p.S217C	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	260						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GGGATTCTCTCCAATTGCAAT	0.498000													6	585					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945722	32945722	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:32945722G>C	ENST00000395289.2	+	9	3119	c.1518G>C	c.(1516-1518)gaG>gaC	p.E506D	BRD2_ENST00000395287.1_Missense_Mutation_p.E506D|BRD2_ENST00000443797.2_Missense_Mutation_p.E386D|BRD2_ENST00000374831.4_Missense_Mutation_p.E506D|BRD2_ENST00000449085.2_Missense_Mutation_p.E459D|BRD2_ENST00000374825.4_Missense_Mutation_p.E506D			P25440	BRD2_HUMAN	bromodomain containing 2	506	Glu/Ser-rich.|Poly-Glu.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						aggaagaagagAGTGAAAGCT	0.478000													5	72					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46351147	46351147	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:46351147C>T	ENST00000245934.7	-	7	783	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	180					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCGTGGGTGCGGATGCCGTC	0.582000													6	18					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782335	44782335	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:44782335G>A	ENST00000266534.3	+	8	1552	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.E371E	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	475						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACTTCAATGAGATCGTCTACA	0.453000													5	82					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925321	67925321	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:67925321G>C	ENST00000304363.4	-	11	2845	c.2492C>G	c.(2491-2493)tCt>tGt	p.S831C		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCCTCAGAAGAGGAGGAATC	0.443000													18	68					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943329	44943329	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:44943329G>A	ENST00000296125.4	+	8	945	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	293					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACAGGCTTCGATTCAGCTCA	0.562000													12	8					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716110	153716110	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:153716110G>A	ENST00000263512.4	-	2	1668	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	SLC10A3_ENST00000369649.4_Silent_p.I361I|SLC10A3_ENST00000393587.4_Silent_p.I390I|SLC10A3_ENST00000393586.1_Silent_p.I445I	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	390					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGCACCGTGATACCCACCA	0.637000													8	30					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													3	51					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21508201	21508201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:21508201G>A	ENST00000313654.9	+	63	8533	c.8292G>A	c.(8290-8292)tgG>tgA	p.W2764*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.W1155*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.W1099*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.W2708*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2764					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGAAGACTGGAAGGTAAGTG	0.458000													6	33					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44945181	44945181	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:44945181G>T	ENST00000377967.4	+	24	3546	c.3505G>T	c.(3505-3507)Gtt>Ttt	p.V1169F	KDM6A_ENST00000536777.1_Missense_Mutation_p.V1124F|KDM6A_ENST00000382899.4_Missense_Mutation_p.V1176F|KDM6A_ENST00000543216.1_Missense_Mutation_p.V1090F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1169	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGGTTTGTTGTTCCTGAAGG	0.333000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								30	32					2.47316e-13	2.66841e-13	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58831502	58831502	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:58831502A>T	ENST00000355431.3	+	20	3068	c.2695A>T	c.(2695-2697)Aat>Tat	p.N899Y	ARID4A_ENST00000348476.3_Missense_Mutation_p.N899Y|ARID4A_ENST00000395168.3_Missense_Mutation_p.N899Y|ARID4A_ENST00000431317.2_Missense_Mutation_p.N899Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	899					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAAAACTTAAATTTTGAACA	0.338000													8	30					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144900579	144900579	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:144900579G>A	ENST00000526683.1	-	6	1029	c.474C>T	c.(472-474)atC>atT	p.I158I	PUF60_ENST00000313352.7_Silent_p.I98I|PUF60_ENST00000527197.1_Silent_p.I112I|PUF60_ENST00000453551.2_Silent_p.I115I|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000349157.6_Silent_p.I141I|PUF60_ENST00000456095.2_Silent_p.I129I	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	158	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 1.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGACATGTCGATGCTCTTGA	0.647000													14	32					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55462425	55462425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:55462425G>C	ENST00000360586.3	-	11	1114	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.S227*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.S227*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	350						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AATCCCTTTTGAAAAAGAAGG	0.378000													18	12					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65003944	65003944	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:65003944C>T	ENST00000525437.1	+	0	1361							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCTCCTTCATCTGTGTGTACC	0.632000													7	13					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28101442	28101442	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:28101442C>G	ENST00000305242.5	-	20	3226	c.3134G>C	c.(3133-3135)tGa>tCa	p.*1045S	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Missense_Mutation_p.E611Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	0							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTTAAATTTCAAGTGTATCT	0.453000													37	59					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113266540	113266540	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:113266540G>C	ENST00000297405.5	-	63	10296	c.10052C>G	c.(10051-10053)tCt>tGt	p.S3351C	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3182C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3311C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3281C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3351	Sushi 27.					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						GTTTTCACAAGAGGTTTGGGT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	214					0	0	1	0	0
FAM162A	26355	broad.mit.edu	37	3	122123117	122123117	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:122123117G>C	ENST00000477892.1	+	3	254	c.170G>C	c.(169-171)aGa>aCa	p.R57T	FAM162A_ENST00000232125.5_Missense_Mutation_p.R47T|FAM162A_ENST00000469967.1_Missense_Mutation_p.R57T	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	57						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						ACTTACAACAGAGTGCCTTTA	0.368000													5	28					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040716	39040716	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:39040716C>G	ENST00000373256.4	+	6	631	c.588C>G	c.(586-588)atC>atG	p.I196M		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	196					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCGTCTTCATCAAGGACGCAG	0.577000													24	69					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42599721	42599721	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:42599721G>A	ENST00000389341.5	-	10	948	c.882C>T	c.(880-882)ttC>ttT	p.F294F	POU2F2_ENST00000526816.2_Silent_p.F310F|POU2F2_ENST00000560398.1_Silent_p.F316F|POU2F2_ENST00000342301.4_Silent_p.F310F|POU2F2_ENST00000560558.1_Silent_p.F255F|POU2F2_ENST00000529952.1_Silent_p.F310F|POU2F2_ENST00000529067.1_Silent_p.F294F|POU2F2_ENST00000533720.1_Silent_p.F294F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	310					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TCTCTAAGGCGAAGCGGACGT	0.672000													7	17					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70621380	70621380	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:70621380G>C	ENST00000449580.1	+	25	3837	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	TAF1_ENST00000373790.4_Silent_p.L1262L|TAF1_ENST00000423759.1_Silent_p.L1283L|TAF1_ENST00000276072.3_Silent_p.L1283L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1262					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTGCAGCTGAAATGTGGGG	0.438000													8	21					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16949640	16949640	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:16949640C>G	ENST00000377833.4	-	49	7637	c.7572G>C	c.(7570-7572)gaG>gaC	p.E2524D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2524	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACACAGTTTCTCTAGCTGGG	0.403000													15	48					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477309	102477309	+	Missense_Mutation	SNP	C	C	T	rs148818720	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:102477309C>T	ENST00000260228.2	-	6	922	c.910G>A	c.(910-912)Gct>Act	p.A304T	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	304	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		ATTGTCACAGCGTCAAAGGAT	0.577000													14	27					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37418257	37418257	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:37418257C>T	ENST00000399215.1	-	5	1721	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	SETD4_ENST00000399208.2_Missense_Mutation_p.E117K|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Missense_Mutation_p.E117K|SETD4_ENST00000399205.1_Missense_Mutation_p.E93K|SETD4_ENST00000399201.1_Missense_Mutation_p.E93K|SETD4_ENST00000399212.1_Missense_Mutation_p.E93K|SETD4_ENST00000332131.4_Missense_Mutation_p.E117K			Q9NVD3	SETD4_HUMAN	SET domain containing 4	117	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCATGCTTTTCTGAAACTAAA	0.453000													4	78					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428929	142428929	+	RNA	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:142428929C>A	ENST00000390400.2	+	0	309																											CTCCCTGATTCTGGAGTCCGC	0.483000													10	13					3.86212e-05	3.99866e-05	1	1	0
AARS2	57505	broad.mit.edu	37	6	44273474	44273474	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:44273474C>T	ENST00000244571.4	-	10	1352	c.1350G>A	c.(1348-1350)ttG>ttA	p.L450L	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	450					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTACCATGTCCAAGGGGAGTC	0.557000													22	129					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61446386	61446386	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:61446386G>A	ENST00000261249.6	-	2	614	c.230C>T	c.(229-231)tCt>tTt	p.S77F	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	77						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TCGGACATCAGAAGGTGGTGA	0.378000													35	50					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699942	153699942	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:153699942C>T	ENST00000369682.3	+	32	5656	c.5481C>T	c.(5479-5481)ctC>ctT	p.L1827L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1827					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGTGCGCTCAACGAGCTGT	0.562000													8	46					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20082251	20082251	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:20082251C>T	ENST00000263754.4	+	1	737	c.282C>T	c.(280-282)ctC>ctT	p.L94L	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	94					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TGGAGAAACTCGGAGTGTACT	0.706000													13	6					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1573174	1573174	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:1573174C>T	ENST00000407249.3	-	14	1422	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	CDK11B_ENST00000317673.7_Missense_Mutation_p.E473K|CDK11B_ENST00000340677.5_Missense_Mutation_p.E462K|CDK11B_ENST00000341832.6_Missense_Mutation_p.E428K			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	485	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GTGTTGATCTCCCTCAGCGAC	0.552000													41	116					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441806	61441806	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:61441806G>T	ENST00000398571.2	-	68	8147	c.8071C>A	c.(8071-8073)Ctt>Att	p.L2691I	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2691					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTGGTATAAGGGACACCAGA	0.418000													20	38					1.96292e-10	2.09583e-10	1	1	0
BCAR3	8412	broad.mit.edu	37	1	94048201	94048201	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:94048201G>A	ENST00000370244.1	-	9	1631	c.1343C>T	c.(1342-1344)tCa>tTa	p.S448L	BCAR3_ENST00000539242.1_Missense_Mutation_p.S124L|BCAR3_ENST00000370243.1_Missense_Mutation_p.S448L|BCAR3_ENST00000370247.3_Missense_Mutation_p.S357L|BCAR3_ENST00000260502.6_Missense_Mutation_p.S448L|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	448					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGGGCACATGAGGGTAGCTT	0.577000													10	21					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388851	43388851	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:43388851T>C	ENST00000296088.7	+	7	1404	c.1100T>C	c.(1099-1101)aTt>aCt	p.I367T	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.I367T|SNRK_ENST00000437827.1_Missense_Mutation_p.I161T|SNRK_ENST00000454177.1_Missense_Mutation_p.I367T	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	367					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCAACCAAAATTGATGTACCC	0.473000													62	20					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786429	127786429	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:127786429G>C	ENST00000243253.3	+	10	1325	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	SEC61A1_ENST00000424880.2_Missense_Mutation_p.E261Q|SEC61A1_ENST00000464451.1_Missense_Mutation_p.E387Q|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	381					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AACGTGGATTGAGGTCTCAGG	0.468000													23	54					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128699705	128699705	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:128699705G>C	ENST00000357702.5	-	21	3258	c.3127C>G	c.(3127-3129)Caa>Gaa	p.Q1043E	SAP130_ENST00000259235.3_Missense_Mutation_p.Q1008E|SAP130_ENST00000259234.6_Missense_Mutation_p.Q1016E	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1008	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCACTGATTTGATCCATCACA	0.403000													17	48					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59479063	59479063	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:59479063C>T	ENST00000240328.3	+	2	695	c.414C>T	c.(412-414)ttC>ttT	p.F138F	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	138					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TCCCCCCCTTCAAGGTGCGAG	0.562000													13	160					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6151979	6151979	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:6151979C>G	ENST00000446108.1	+	7	1237	c.593C>G	c.(592-594)tCa>tGa	p.S198*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.S198*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	198					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAAGAGGACTCAAGACCTCGA	0.453000													39	53					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28836940	28836940	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:28836940T>C	ENST00000422425.2	+	43	3183	c.3139T>C	c.(3139-3141)Tac>Cac	p.Y1047H	PLB1_ENST00000541605.1_Missense_Mutation_p.Y23H|PLB1_ENST00000327757.5_Missense_Mutation_p.Y1058H	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1058	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TAACTACACGTACCCCATCAA	0.488000													12	46					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783562	74783562	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:74783562G>A	ENST00000233668.5	+	5	1436	c.767G>A	c.(766-768)gGa>gAa	p.G256E	DOK1_ENST00000409429.1_Missense_Mutation_p.G117E|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	256	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGCCCAGGGAAAGGCCGGA	0.627000													16	21					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5037202	5037202	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:5037202G>A	ENST00000574788.1	+	15	2635	c.405G>A	c.(403-405)aaG>aaA	p.K135K	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.K135K|USP6_ENST00000250066.6_Silent_p.K135K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	135	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGGGGCAAGAGGTCATCTG	0.552000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	88					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635356	34635356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:34635356G>T	ENST00000342136.4	+	9	1425	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	IFNAR2_ENST00000382241.3_Nonsense_Mutation_p.E367*|IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	367					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTCCGAGGAGGAGCCTGACCT	0.587000													5	75					0.000602214	0.000614199	1	1	0
ERN2	10595	broad.mit.edu	37	16	23716428	23716428	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:23716428G>A	ENST00000256797.4	-	8	942	c.774C>T	c.(772-774)ctC>ctT	p.L258L	ERN2_ENST00000457008.2_Silent_p.L210L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	210					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGTCCACAGTGAGCAGCAGGC	0.652000													5	22					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70590867	70590867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:70590867G>C	ENST00000302516.5	+	15	2156	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	649					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGTGGGACTGAGAAGCAGGA	0.517000													5	24					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306845	54306845	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:54306845C>T	ENST00000545554.1	+	1	1745	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S582L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S582L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	582					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGTCATCTTCGGACCGGGAG	0.448000													6	21					0	0	1	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666207	49666207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:49666207G>T	ENST00000301072.6	+	4	822	c.547G>T	c.(547-549)Gag>Tag	p.E183*	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Nonsense_Mutation_p.E253*	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	183					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGCTGTAGTTGAGCCCTACAA	0.522000													14	22					1.66031e-10	1.77457e-10	1	1	0
ZC3H12D	340152	broad.mit.edu	37	6	149777857	149777857	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:149777857C>T	ENST00000389942.5	-	4	872	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.E209K|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.E209K|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.E209K			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	209						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		CACTTCCACTCGGGGTTCTCG	0.642000													9	35					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37529146	37529146	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:37529146G>A	ENST00000432825.2	-	5	1729	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	FBXO10_ENST00000543968.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.L86L|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	561						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCGTGGTACAGGATGTAAATG	0.488000													8	5					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576358	90576358	+	RNA	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:90576358G>A	ENST00000551025.1	+	0	4786							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGCATAGTTGATCGTTTATT	0.308000													5	8					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23091486	23091486	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:23091486C>G	ENST00000219689.7	-	13	1956	c.1957G>C	c.(1957-1959)Gac>Cac	p.D653H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	653					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATGCGCCTGTCTCCTTCCTGT	0.473000													6	56					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100897504	100897504	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:100897504G>A	ENST00000369208.3	-	5	1202	c.420C>T	c.(418-420)ctC>ctT	p.L140L	SIM1_ENST00000262901.4_Silent_p.L140L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	140	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGGGCGGTGAGCACCGCCG	0.572000													18	31					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56233492	56233492	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:56233492A>T	ENST00000322569.4	-	5	645	c.554T>A	c.(553-555)cTg>cAg	p.L185Q	MMP19_ENST00000548629.1_Missense_Mutation_p.L162Q|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	185					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CACACTGCCCAGCTCTGGGAT	0.597000													3	7					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568832	46568832	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:46568832G>C	ENST00000458649.2	-	4	627	c.209C>G	c.(208-210)tCc>tGc	p.S70C	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S70C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S70C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S70C|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S70C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S70C|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S70C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	70					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CACATGGGTGGAGGCTAAGAG	0.418000													30	10					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094525	26094525	+	RNA	SNP	T	T	C	rs62211580	by1000genomes	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:26094525T>C	ENST00000478176.1	-	0	139					NR_003678.1													p.H33R(1)									CTGCTGGTGGTGGGTGCTGGG	0.393000													3	13					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117888	37117888	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:37117888G>C	ENST00000435416.1	+	3	2581	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	ZNF382_ENST00000423582.1_Missense_Mutation_p.Q314H|ZNF382_ENST00000292928.2_Missense_Mutation_p.Q363H|ZNF382_ENST00000439428.1_Missense_Mutation_p.Q362H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	363	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTCCGCCAGAAGGCCACCC	0.478000													24	54					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441722	37441722	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:37441722G>A	ENST00000307750.4	-	2	1015	c.827C>T	c.(826-828)tCt>tTt	p.S276F		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTGTTATCAGACTGGCTGGG	0.473000													10	61					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18593487	18593487	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:18593487C>G	ENST00000379989.3	+	6	444	c.159C>G	c.(157-159)gtC>gtG	p.V53V	CDKL5_ENST00000379996.3_Silent_p.V53V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	53	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATGAAGAAGTCAAAGAAACGA	0.373000													13	83					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101074914	101074914	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:101074914G>C	ENST00000360863.6	-	9	1613	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	RGS22_ENST00000523287.1_Missense_Mutation_p.I292M|RGS22_ENST00000523437.1_Missense_Mutation_p.I461M	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	473					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATTTTGATAAGATTTCTGCAG	0.313000													24	31					0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313639	63313639	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:63313639G>A	ENST00000255688.3	+	4	454	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.E136K	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	136					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCCAAGGTTGAAGTTGGTGT	0.532000													6	257					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60765945	60765945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:60765945G>A	ENST00000303375.5	+	22	3547	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1049	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAGTGGGTGGAGCAGGAGCC	0.592000													35	164					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780482	37780482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:37780482G>A	ENST00000447769.1	+	4	776	c.487G>A	c.(487-489)Gag>Aag	p.E163K	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.E163K|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	163						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAATACAATGAGGAGCACTG	0.438000													9	71					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138789	32138789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:32138789G>A	ENST00000395499.1	-	3	838	c.259C>T	c.(259-261)Cga>Tga	p.R87*	AGPAT1_ENST00000375107.3_Nonsense_Mutation_p.R87*|AGPAT1_ENST00000395496.1_Nonsense_Mutation_p.R87*|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Nonsense_Mutation_p.R87*|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000375104.2_Nonsense_Mutation_p.R87*|AGPAT1_ENST00000336984.6_Nonsense_Mutation_p.R87*|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	87					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGAGCCCCTCGCACCTCCACT	0.582000													4	52					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14962407	14962407	+	Silent	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:14962407A>G	ENST00000287667.7	+	16	1980	c.1809A>G	c.(1807-1809)gaA>gaG	p.E603E		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	603						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCCTTAGGAATTTTATCAGG	0.418000													67	93					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62774402	62774402	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:62774402C>T	ENST00000400873.3	-	0	1019					NR_026899.1																						CGAAGTCTTCCGACAGAGGTG	0.672000													4	10					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964658	67964658	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67964658C>T	ENST00000574481.1	-	4	850	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	97	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGCAAGGGCTCTGCGTTTGAT	0.622000													4	48					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31165508	31165508	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:31165508C>G	ENST00000357033.4	-	75	10887	c.10681G>C	c.(10681-10683)Gag>Cag	p.E3561Q	DMD_ENST00000378677.2_Missense_Mutation_p.E3557Q|DMD_ENST00000343523.2_Missense_Mutation_p.E991Q|DMD_ENST00000378680.2_Missense_Mutation_p.E383Q|DMD_ENST00000378707.3_Missense_Mutation_p.E1101Q|DMD_ENST00000541735.1_Missense_Mutation_p.E991Q|DMD_ENST00000474231.1_Missense_Mutation_p.E1101Q|DMD_ENST00000378702.4_Missense_Mutation_p.E493Q|DMD_ENST00000361471.4_Missense_Mutation_p.E480Q|DMD_ENST00000359836.1_Missense_Mutation_p.E1088Q|DMD_ENST00000378723.3_Missense_Mutation_p.E493Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3561					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCTTGGCCTCAGCAATGAGC	0.557000													13	93					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170801984	170801984	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:170801984C>T	ENST00000436636.2	-	26	3473	c.3129G>A	c.(3127-3129)aaG>aaA	p.K1043K	TNIK_ENST00000341852.6_Silent_p.K959K|TNIK_ENST00000538048.1_Silent_p.K995K|TNIK_ENST00000460047.1_Silent_p.K980K|TNIK_ENST00000488470.1_Silent_p.K988K|TNIK_ENST00000369326.5_Silent_p.K1021K|TNIK_ENST00000470834.1_Silent_p.K1006K|TNIK_ENST00000284483.8_Silent_p.K1035K|TNIK_ENST00000357327.5_Silent_p.K1014K|TNIK_ENST00000475336.1_Silent_p.K951K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1043	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGAATCGTTTCTTGTATTTTC	0.373000													4	36					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139358919	139358919	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:139358919G>C	ENST00000313050.7	-	7	4472	c.4399C>G	c.(4399-4401)Ctg>Gtg	p.L1467V	SEC16A_ENST00000431893.2_Missense_Mutation_p.L1289V|SEC16A_ENST00000371706.3_Missense_Mutation_p.L1289V|SEC16A_ENST00000290037.6_Missense_Mutation_p.L1289V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1289					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTGAAGGCAGATTGGGAATC	0.542000													17	29					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53175509	53175509	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:53175509G>C	ENST00000445930.2	+	4	281	c.275G>C	c.(274-276)aGa>aCa	p.R92T	PSMC6_ENST00000606149.1_Missense_Mutation_p.R78T			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AATGGACCAAGATATGTTGTG	0.328000													9	43					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884168	36884168	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:36884168G>A	ENST00000429976.2	-	17	5340	c.5093C>T	c.(5092-5094)aCt>aTt	p.T1698I	TRANK1_ENST00000428977.2_Missense_Mutation_p.T1148I|TRANK1_ENST00000301807.6_Missense_Mutation_p.T1148I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1698					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCCGCAGGAGTTGAGGTCTT	0.473000													4	13					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899371	103899371	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:103899371C>G	ENST00000278070.2	+	5	1145	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C	PPRC1_ENST00000413464.2_Missense_Mutation_p.S369C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGACAGGTCTCTCCTGGACCC	0.592000													20	80					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418758	19418758	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:19418758C>T	ENST00000538714.1	+	8	689	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H229Y|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H121Y|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H229Y|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.H229Y|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H229Y|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H229Y|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H121Y|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H229Y	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	229	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTCTGAAGATCACATTAATCG	0.333000													5	77					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132234008	132234008	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:132234008C>T	ENST00000265343.5	-	10	1682	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	AFF4_ENST00000378595.3_Missense_Mutation_p.E435K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	435	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTGCTTTCAGATCCACTG	0.458000													32	103					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395052	54395052	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:54395052G>A	ENST00000263431.3	+	6	936	c.654G>A	c.(652-654)acG>acA	p.T218T	PRKCG_ENST00000540413.1_Silent_p.T218T|PRKCG_ENST00000536044.1_Silent_p.T218T|PRKCG_ENST00000542049.1_Silent_p.T105T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	218	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TGAAAGCCACGCTAAACCCTG	0.537000													16	43					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310282	24310282	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:24310282G>A	ENST00000357002.4	+	4	1595	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZNF254_ENST00000342944.6_Missense_Mutation_p.E409K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	494					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAATGTGAAGAATGTGGCAA	0.403000													7	100					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258291	16258291	+	Silent	SNP	C	C	T	rs149208520		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:16258291C>T	ENST00000375759.3	+	11	5760	c.5556C>T	c.(5554-5556)ctC>ctT	p.L1852L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1852					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGGAAAAACTCAAGCGGTCCA	0.493000													6	50					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15974811	15974811	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:15974811G>A	ENST00000268712.3	-	30	4321	c.4064C>T	c.(4063-4065)cCa>cTa	p.P1355L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1371L|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1355	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATCTTGCCTTGGAATCTCATG	0.448000													83	121					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27425215	27425215	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:27425215G>C	ENST00000326799.3	-	6	849	c.701C>G	c.(700-702)tCa>tGa	p.S234*	YME1L1_ENST00000375972.3_Nonsense_Mutation_p.S144*|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.S177*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	234					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCACGAATGATGGCGCTAT	0.378000													12	101					0	0	1	0	0
TDRP	157695	broad.mit.edu	37	8	442722	442722	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:442722C>G	ENST00000324079.6	-	3	475	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	TDRP_ENST00000524229.1_5'UTR|TDRP_ENST00000427263.2_Missense_Mutation_p.E79Q|TDRP_ENST00000523656.1_Missense_Mutation_p.E79Q					testis development related protein																		GCCTTCAACTCTTCTTTTAAT	0.368000													6	98					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308236	20308236	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:20308236A>T	ENST00000335117.8	+	4	774	c.717A>T	c.(715-717)aaA>aaT	p.K239N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AACCCTACAAATGTGAAGAAT	0.383000													8	49					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291056	103291056	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:103291056C>G	ENST00000520539.1	-	44	6892	c.6286G>C	c.(6286-6288)Gag>Cag	p.E2096Q	UBR5_ENST00000521922.1_Missense_Mutation_p.E2090Q|UBR5_ENST00000220959.4_Missense_Mutation_p.E2096Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2096					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTCTTACCTCTAGGCAGTTT	0.348000													15	276					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47110895	47110895	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:47110895C>G	ENST00000576409.1	-	7	753	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.E57Q|ATPAF1_ENST00000371937.4_Missense_Mutation_p.E208Q|ATPAF1_ENST00000532925.1_Missense_Mutation_p.E120Q			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	208					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ACAAAAAACTCATAACCTTCC	0.403000													15	65					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082817	11082817	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:11082817C>G	ENST00000304623.8	-	16	2968	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.E836Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.E869Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.E590Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.E494Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	927					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCGATGAGCTCCTTATTTCTG	0.517000													4	157					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60775941	60775941	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:60775941C>T	ENST00000370823.3	+	7	1047	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	MTG2_ENST00000536470.1_Silent_p.V115V|MTG2_ENST00000436421.2_Silent_p.V185V	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		ACGCAATCGTCGCAAACAAGA	0.542000													8	97					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919773	43919773	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:43919773C>G	ENST00000282406.4	+	4	417	c.307C>G	c.(307-309)Caa>Gaa	p.Q103E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	103						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGACGTCATTCAAAACTTGGA	0.333000													14	66					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160087249	160087249	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:160087249C>G	ENST00000263635.6	+	27	5549	c.5312C>G	c.(5311-5313)tCt>tGt	p.S1771C	TANC1_ENST00000454300.1_Missense_Mutation_p.S1665C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1771						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGAAGCCCTCTCTCATGCAA	0.532000													6	22					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38164097	38164097	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:38164097G>A	ENST00000406386.3	+	19	6744	c.6489G>A	c.(6487-6489)aaG>aaA	p.K2163K	TRIOBP_ENST00000403663.2_Silent_p.K450K	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2163					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AAGCCATGAAGAAGGCCTACC	0.597000													5	9					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21110072	21110072	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:21110072C>T	ENST00000261383.3	-	17	2384	c.2385G>A	c.(2383-2385)ttG>ttA	p.L795L	DNAH3_ENST00000415178.1_Silent_p.L795L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	795	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCAAGTCTCAACTCAAATT	0.398000													24	151					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71654602	71654602	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:71654602T>A	ENST00000226328.4	+	11	1714	c.1151T>A	c.(1150-1152)gTc>gAc	p.V384D	RUFY3_ENST00000536664.1_Missense_Mutation_p.V368D|RUFY3_ENST00000417478.2_Missense_Mutation_p.V444D|RUFY3_ENST00000381006.3_Missense_Mutation_p.V384D|RUFY3_ENST00000502653.1_Missense_Mutation_p.V331D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	384					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGAAGGATGTCTGTGAGAAG	0.493000													6	31					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538361	55538361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:55538361C>G	ENST00000220676.1	+	4	2067	c.1919C>G	c.(1918-1920)gCa>gGa	p.A640G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	640					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCACTGCAAGAATTGAC	0.363000													4	93					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28624349	28624349	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:28624349C>T	ENST00000380982.4	-	6	706	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	FLT3_ENST00000241453.7_Missense_Mutation_p.E209K|FLT3_ENST00000537084.1_Missense_Mutation_p.E209K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	209					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGGACTTTCTTCTTTACAG	0.388000			"""Mis, O"""		"""AML, ALL"""								6	54					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43011226	43011226	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:43011226G>A	ENST00000428554.2	+	11	1544	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.R134Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R134Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	134										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATTCAAAGCCGAAAGGAAGAG	0.328000													6	45					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35242277	35242277	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:35242277C>T	ENST00000262866.4	-	8	1200	c.778G>A	c.(778-780)Gat>Aat	p.D260N	SLA2_ENST00000360672.2_3'UTR	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	260	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCTAGGCATCATCCAAAGAG	0.572000													11	34					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21462717	21462717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:21462717C>A	ENST00000417816.2	-	1	399	c.46G>T	c.(46-48)Gag>Tag	p.E16*	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGACTTTCTCGGTGGGATAC	0.687000													4	43					0.00909568	0.00918529	1	1	0
ZNF296	162979	broad.mit.edu	37	19	45575833	45575833	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:45575833C>G	ENST00000303809.2	-	3	668	c.454G>C	c.(454-456)Gag>Cag	p.E152Q		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	152					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						TTCAGCTCCTCTCGTTCTGGT	0.582000													16	49					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090496	111090496	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:111090496C>G	ENST00000262839.2	-	6	2464	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	516					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						TTGAGGATATCAAGCAGCATG	0.438000													30	30					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120979992	120979992	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:120979992G>A	ENST00000392793.1	+	4	542	c.271G>A	c.(271-273)Gat>Aat	p.D91N	TECTA_ENST00000264037.2_Missense_Mutation_p.D91N			O75443	TECTA_HUMAN	tectorin alpha	91					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)		TCCCCTGACAGATGGGAGAGC	0.483000													6	40					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109405	43109405	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43109405G>A	ENST00000230419.4	+	11	1839		c.e11-1		PTK7_ENST00000349241.2_Splice_Site|PTK7_ENST00000352931.2_Splice_Site|PTK7_ENST00000481273.1_Splice_Site|PTK7_ENST00000345201.2_Splice_Site	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7						actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TACCCCTGCAGATGGGAGCAG	0.542000													23	137					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605023	52605023	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:52605023G>C	ENST00000521776.2	+	2	2816	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	695					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCGGCAATTTGAAAGGACCAT	0.488000													6	165					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876708	27876708	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:27876708G>A	ENST00000374011.2	-	6	2887	c.1919C>T	c.(1918-1920)cCc>cTc	p.P640L	AHDC1_ENST00000247087.5_Missense_Mutation_p.P640L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	640							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGGCTCACTGGGTGTCCAGCA	0.682000													42	58					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120263063	120263063	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:120263063G>A	ENST00000392521.2	-	8	918	c.863C>T	c.(862-864)tCa>tTa	p.S288L	CIT_ENST00000261833.7_Missense_Mutation_p.S288L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	288	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CACGCCCACTGACCACCAGTC	0.507000													22	45					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112440483	112440483	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:112440483C>A	ENST00000230538.7	-	34	5094	c.4697G>T	c.(4696-4698)cGa>cTa	p.R1566L	LAMA4_ENST00000424408.2_Missense_Mutation_p.R1559L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1559L|LAMA4_ENST00000389463.4_Missense_Mutation_p.R1559L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1566	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTACCAGTCGGCCACTGCT	0.458000													22	27					6.44725e-10	6.86234e-10	1	1	0
MYH15	22989	broad.mit.edu	37	3	108118017	108118017	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:108118017C>G	ENST00000273353.3	-	35	4950	c.4894G>C	c.(4894-4896)Gag>Cag	p.E1632Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1632						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						TTGAGGTCCTCTTCCATCTTC	0.493000													6	91					0	0	1	0	0
CCDC117	150275	broad.mit.edu	37	22	29177153	29177153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:29177153G>T	ENST00000249064.4	+	3	633	c.457G>T	c.(457-459)Gag>Tag	p.E153*	CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000448492.2_Nonsense_Mutation_p.E135*|CCDC117_ENST00000443309.2_Nonsense_Mutation_p.E21*	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	153										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCAGGAGATTGAGGACAGGTA	0.403000													4	20					0.00024832	0.000254274	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768402	57768402	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:57768402C>T	ENST00000371030.2	+	1	2328	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	776						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAGAGGCTCCCAGGCCAGTTT	0.652000													3	15					0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41939561	41939561	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:41939561A>T	ENST00000281623.3	+	6	973	c.917A>T	c.(916-918)gAa>gTa	p.E306V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	306					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGGCAAGATGAATTTTCTCAT	0.323000													68	180					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50723087	50723087	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:50723087A>G	ENST00000404971.1	-	16	4485	c.3146T>C	c.(3145-3147)aTc>aCc	p.I1049T	NRXN1_ENST00000405472.3_Missense_Mutation_p.I1001T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1009T|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1009T|NRXN1_ENST00000401710.1_Missense_Mutation_p.I18T|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1009T|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1001T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1009	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGCGTTGTGATTTTTGTGTC	0.468000													13	12					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139370	178139370	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:178139370G>C	ENST00000335815.2	-	5	1706	c.1509C>G	c.(1507-1509)ttC>ttG	p.F503L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	503					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		AGTTACACCTGAATGTTTTCC	0.408000													21	68					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30192428	30192428	+	Silent	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:30192428T>C	ENST00000261708.4	-	18	1730	c.1593A>G	c.(1591-1593)gaA>gaG	p.E531E		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	531					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCTCATAATATTCTCTTATGT	0.358000													35	45					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099409	4099409	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:4099409C>G	ENST00000262948.5	-	7	962	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	MAP2K2_ENST00000394867.4_Missense_Mutation_p.E140Q	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	237	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAACCGCTCCGGCTGCAGC	0.672000													3	12					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626446	140626446	+	Missense_Mutation	SNP	G	G	C	rs139501982		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:140626446G>C	ENST00000231173.3	+	1	1300	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		434	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCGAGCAGAGCAT	0.582000													45	16					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540226	128540226	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:128540226C>G	ENST00000368227.3	-	6	1075	c.709G>C	c.(709-711)Gat>Cat	p.D237H	PTPRK_ENST00000532331.1_Missense_Mutation_p.D237H|PTPRK_ENST00000368215.3_Missense_Mutation_p.D237H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D237H|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.D237H|PTPRK_ENST00000368213.5_Missense_Mutation_p.D237H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D237H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	237	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTGGTATATCTTCTCCATTT	0.368000													10	65					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874111	47874111	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:47874111G>C	ENST00000503935.2	+	3	731		c.e3-1		KAT7_ENST00000510819.1_Intron|KAT7_ENST00000259021.4_Splice_Site|KAT7_ENST00000424009.2_Splice_Site|KAT7_ENST00000509773.1_Splice_Site|KAT7_ENST00000435742.2_Splice_Site|KAT7_ENST00000454930.2_Intron			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7						DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										ATTGGGATCAGATTCCAGTCC	0.413000													38	13					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27211545	27211545	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:27211545C>G	ENST00000283921.4	-	2	1205	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	HOXA10_ENST00000396344.4_Missense_Mutation_p.E86D|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	402					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGGCTGTGAGCTCCCGGATCC	0.517000													43	36					0	0	1	0	0
MIR22HG	84981	broad.mit.edu	37	17	1617217	1617217	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:1617217C>T	ENST00000362190.1	-	0	68					NR_029494.1																						AACAGTTCTTCAACTGGCAGC	0.567000													3	25					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97676802	97676802	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:97676802C>T	ENST00000275053.4	-	14	2272	c.2007G>A	c.(2005-2007)ttG>ttA	p.L669L	MMS22L_ENST00000369251.2_Silent_p.L629L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	669					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTAGGAAGCTCAATACTGTCC	0.353000													25	28					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109898575	109898575	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:109898575C>A	ENST00000228495.6	-	3	534	c.253G>T	c.(253-255)Ggt>Tgt	p.G85C	KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.G82C	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	85	BTB.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGTATCGTACCAAAGTGCTTC	0.602000													11	21					1.08611e-07	1.13714e-07	1	1	0
RXFP4	339403	broad.mit.edu	37	1	155912094	155912094	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:155912094G>A	ENST00000368318.3	+	1	615	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	198						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCCCAGCAGGTACTGGCTGG	0.662000													33	51					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46309319	46309319	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:46309319C>T	ENST00000397850.2	-	14	2201	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	ITGB2_ENST00000397852.1_Silent_p.L583L|ITGB2_ENST00000397857.1_Silent_p.L583L|ITGB2_ENST00000397854.3_Silent_p.L526L|ITGB2_ENST00000355153.4_Silent_p.L583L|ITGB2_ENST00000302347.5_Silent_p.L583L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	583	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCGCGGGTTCAGGCAGCCCT	0.667000													13	15					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003813	57003813	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:57003813G>C	ENST00000606794.1	-	1	862	c.666C>G	c.(664-666)ttC>ttG	p.F222L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	222						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGGCGATGAAGAAGTAACAGG	0.627000													14	40					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30267339	30267339	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:30267339G>C	ENST00000322652.5	+	2	538	c.309G>C	c.(307-309)cgG>cgC	p.R103R	SUZ12_ENST00000580398.1_Silent_p.R103R	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	103					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTCGAACTCGGAATCTCATAG	0.299000			T	JAZF1	endometrial stromal tumours								17	187					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32924877	32924877	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:32924877G>C	ENST00000358763.2	-	11	1456	c.1214C>G	c.(1213-1215)tCc>tGc	p.S405C	SYN3_ENST00000332840.5_Missense_Mutation_p.S405C	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	405	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGAGGGGGGAGGGCGCTGT	0.567000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	28					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100835428	100835428	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:100835428G>C	ENST00000355338.2	-	2	713	c.95C>G	c.(94-96)tCa>tGa	p.S32*	WARS_ENST00000556645.1_Intron|WARS_ENST00000344102.5_Intron|WARS_ENST00000557135.1_Nonsense_Mutation_p.S32*|WARS_ENST00000358655.4_Intron|WARS_ENST00000392882.2_Nonsense_Mutation_p.S32*	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	32	WHEP-TRS.				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	ATGTACCTTTGACGCATTTCC	0.522000													6	34					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73285717	73285717	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:73285717G>A	ENST00000272433.2	-	2	241	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Silent_p.F37F	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	37					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AGCGGCCATAGAAGGACGTCT	0.532000													12	19					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323806	44323806	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:44323806G>C	ENST00000354250.2	+	3	753	c.684G>C	c.(682-684)aaG>aaC	p.K228N	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	50					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	ACCAGCCAAAGAAGAAAGGGT	0.478000													31	102					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406503	7406503	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:7406503G>C	ENST00000322644.6	+	17	3219	c.2820G>C	c.(2818-2820)aaG>aaC	p.K940N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	940					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCTGGTGAAGGACGTGCTGA	0.587000													29	5					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803346	20803346	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:20803346C>T	ENST00000289416.5	+	11	1824	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.S442L|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	450					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAAACAGCTTCAACTCTACGA	0.353000													22	40					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10231184	10231184	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:10231184G>A	ENST00000418404.3	-	21	2853	c.2690C>T	c.(2689-2691)tCt>tTt	p.S897F	MYH13_ENST00000252172.4_Splice_Site_p.S897F|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	897					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGTACTTACAGACTGGACCTG	0.527000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180268	226180268	+	Splice_Site	SNP	T	T	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:226180268T>A	ENST00000272091.7	-	4	369	c.351A>T	c.(349-351)gcA>gcT	p.A117A		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		ATTCAGCCATTCTGGGGATGA	0.433000													15	65					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048465	22048465	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:22048465C>G	ENST00000376980.3	-	11	1520	c.1230G>C	c.(1228-1230)atG>atC	p.M410I	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	410					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCTGGGTGATCATGTCATCGG	0.607000													9	25					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16244626	16244626	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:16244626C>T	ENST00000205557.7	-	30	4241	c.4212G>A	c.(4210-4212)gtG>gtA	p.V1404V		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1404	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTTTCTGGCCCACGCTGGGAA	0.607000													3	7					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18961018	18961018	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:18961018G>A	ENST00000420770.2	+	2	390	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	PAX7_ENST00000375375.3_Missense_Mutation_p.G103S|PAX7_ENST00000400661.3_Missense_Mutation_p.G103S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	103	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GGCCATCGGCGGCAGCAAGCC	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								14	10					0	0	1	0	0
PABPN1	8106	broad.mit.edu	37	14	23794476	23794476	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:23794476C>T	ENST00000216727.4	+	7	1083	c.902C>T	c.(901-903)tCa>tTa	p.S301L	PABPN1_ENST00000556821.1_Missense_Mutation_p.S173L|PABPN1_ENST00000397276.2_3'UTR|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S328L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S328L	NM_004643.3	NP_004634.1			poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGCGACATCATGGTATTCC	0.418000													25	47					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26988776	26988776	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:26988776C>G	ENST00000247020.4	-	1	417	c.119G>C	c.(118-120)cGa>cCa	p.R40P	SDF2_ENST00000592250.1_Intron	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	40	MIR 1.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					TGAGTGCAGTCGGACGTTGTG	0.637000													3	74					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221305	56221305	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:56221305G>C	ENST00000357606.3	-	3	1427	c.1138C>G	c.(1138-1140)Ctg>Gtg	p.L380V	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S9C|DNAJC14_ENST00000317287.5_Missense_Mutation_p.L380V|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L380V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	380					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCTCTCAGCAGAGTCAAGCAA	0.552000													10	82					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	415527	415527	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:415527T>C	ENST00000280886.6	-	18	2125	c.2038A>G	c.(2038-2040)Atg>Gtg	p.M680V	DIP2C_ENST00000381496.3_Missense_Mutation_p.M573V|DIP2C_ENST00000540204.1_Start_Codon_SNP_p.M1V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	680						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTCCATGCATGGAGAGGACA	0.557000													34	43					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15154822	15154822	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:15154822C>G	ENST00000378165.4	-	10	1391	c.1311G>C	c.(1309-1311)atG>atC	p.M437I	NMT2_ENST00000378150.1_Missense_Mutation_p.M424I|NMT2_ENST00000540259.1_Missense_Mutation_p.M249I|NMT2_ENST00000535341.1_Missense_Mutation_p.M424I|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	437					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GCGCGTCGCTCATGAGGTCCA	0.542000													52	45					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723853	128723853	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:128723853A>T	ENST00000371113.4	+	23	2666	c.2501A>T	c.(2500-2502)aAt>aTt	p.N834I	OCRL_ENST00000357121.5_Missense_Mutation_p.N826I	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	834	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCCATAGAAATGTTTTCCGT	0.418000													73	68					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128993	35128993	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:35128993G>C	ENST00000373913.3	+	10	2962	c.2482G>C	c.(2482-2484)Gag>Cag	p.E828Q	DLGAP4_ENST00000401952.2_Missense_Mutation_p.E828Q|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E831Q|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E831Q|DLGAP4_ENST00000340491.4_Missense_Mutation_p.E292Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	831					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGAGACCAAAGAGAACAACCT	0.587000													17	43					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78346910	78346910	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:78346910C>G	ENST00000582970.1	+	49	13030	c.12887C>G	c.(12886-12888)tCc>tGc	p.S4296C	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4345C|RNF213_ENST00000336301.6_Missense_Mutation_p.S2369C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGGGCCTCTCCAAGCCCGGC	0.647000													18	6					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119252891	119252891	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:119252891G>A	ENST00000296498.3	-	4	1233	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	317	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCTGCCTGCAGATCACTTCTG	0.483000													10	35					0	0	1	0	0
STK32A	202374	broad.mit.edu	37	5	146752763	146752763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:146752763C>T	ENST00000397936.3	+	10	1142	c.809C>T	c.(808-810)tCt>tTt	p.S270F	STK32A_ENST00000398523.3_Missense_Mutation_p.S270F	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	270	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGATTTTCTCAGTTATCT	0.373000													24	66					0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10282615	10282615	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:10282615G>C	ENST00000353231.5	-	1	225	c.67C>G	c.(67-69)Caa>Gaa	p.Q23E	CLEC7A_ENST00000304084.8_Missense_Mutation_p.Q23E|CLEC7A_ENST00000396484.2_Missense_Mutation_p.Q23E|CLEC7A_ENST00000310002.4_Missense_Mutation_p.Q23E|CLEC7A_ENST00000298523.5_Missense_Mutation_p.Q23E|CLEC7A_ENST00000525605.1_Missense_Mutation_p.Q23E|CLEC7A_ENST00000533022.1_Missense_Mutation_p.Q23E	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	23					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GTATTGCTTTGAGAGTCGAAG	0.358000													9	66					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16870082	16870082	+	Missense_Mutation	SNP	G	G	T	rs138983442	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:16870082G>T	ENST00000524140.2	+	7	2234	c.1816G>T	c.(1816-1818)Gac>Tac	p.D606Y	NWD1_ENST00000549814.1_Missense_Mutation_p.D606Y|NWD1_ENST00000339803.6_Missense_Mutation_p.D471Y|NWD1_ENST00000523826.1_Missense_Mutation_p.D400Y|NWD1_ENST00000379808.3_Missense_Mutation_p.D606Y|NWD1_ENST00000552788.1_Missense_Mutation_p.D606Y	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	606	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCCCTGGACGACGAGGTCCT	0.617000													9	57					2.74318e-10	2.92283e-10	1	1	0
SDK1	221935	broad.mit.edu	37	7	4014064	4014064	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:4014064G>C	ENST00000404826.2	+	13	2020	c.1881G>C	c.(1879-1881)gaG>gaC	p.E627D	SDK1_ENST00000389531.3_Missense_Mutation_p.E627D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	627	Ig-like C2-type 6.				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)		TCGTGGTGGAGAAGGACGGGT	0.562000													9	39					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32739656	32739656	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:32739656A>G	ENST00000531481.1	-	3	449	c.173T>C	c.(172-174)aTt>aCt	p.I58T	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.I58T			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	58										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTCCACAATAATTTTACCAAT	0.348000													11	7					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33614370	33614370	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:33614370G>C	ENST00000404816.2	+	32	5184	c.4831G>C	c.(4831-4833)Gac>Cac	p.D1611H	LTBP1_ENST00000402934.1_Missense_Mutation_p.D1230H|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1286H|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1285H|LTBP1_ENST00000272273.5_Missense_Mutation_p.D509H|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1243H|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1612H|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1232H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1611					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTCATCCAAGACCGTAAGCA	0.463000													7	70					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921262	12921262	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:12921262C>G	ENST00000240189.2	+	4	1140	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	351										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCTCTCGAGACCCTCG	0.547000													35	137					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23189568	23189568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:23189568G>T	ENST00000400191.3	+	4	868	c.850G>T	c.(850-852)Gag>Tag	p.E284*	EPHB2_ENST00000374630.3_Nonsense_Mutation_p.E284*|EPHB2_ENST00000374627.1_Nonsense_Mutation_p.E278*|EPHB2_ENST00000544305.1_Nonsense_Mutation_p.E284*|EPHB2_ENST00000374632.3_Nonsense_Mutation_p.E284*|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	284	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAAGGGGATGAGGCCTGTAC	0.562000													15	78					7.93312e-07	8.2805e-07	1	1	0
FAM65C	140876	broad.mit.edu	37	20	49227396	49227396	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:49227396G>A	ENST00000327979.2	-	6	819	c.408C>T	c.(406-408)atC>atT	p.I136I	FAM65C_ENST00000045083.2_Silent_p.I136I|FAM65C_ENST00000535356.1_Silent_p.I140I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	136										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACCTTGCTGATGTGAAACT	0.587000													59	52					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905888	38905888	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:38905888C>T	ENST00000359357.3	+	76	11305	c.11051C>T	c.(11050-11052)gCa>gTa	p.A3684V	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3648V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3901V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCGGCCCGCAGCCACCCGC	0.512000													9	81					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841640	100841640	+	Missense_Mutation	SNP	G	G	T	rs139715467	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:100841640G>T	ENST00000369208.3	-	11	2075	c.1293C>A	c.(1291-1293)gaC>gaA	p.D431E	SIM1_ENST00000262901.4_Missense_Mutation_p.D431E			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	431	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D431D(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGCACGATGCGTCGTGCTGGG	0.612000													13	28					2.31682e-05	2.40602e-05	1	1	0
EHHADH	1962	broad.mit.edu	37	3	184922317	184922317	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:184922317C>G	ENST00000231887.3	-	6	872	c.797G>C	c.(796-798)aGa>aCa	p.R266T	EHHADH_ENST00000456310.1_Missense_Mutation_p.R170T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	266	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTGCAGGGCTCTAGCCTGCCC	0.517000													45	67					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43651878	43651878	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:43651878C>G	ENST00000264663.5	+	13	1976	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	NNT_ENST00000512996.2_Missense_Mutation_p.F454L|NNT_ENST00000344920.4_Missense_Mutation_p.F585L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	585					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGGACATGTTCAAGCGTCCCA	0.463000													59	340					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61447506	61447506	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:61447506C>G	ENST00000398571.2	-	67	8062	c.7986G>C	c.(7984-7986)caG>caC	p.Q2662H	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2662					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTCCATATTCTGTAAGACCC	0.388000													154	196					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555505	71555505	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:71555505G>C	ENST00000254803.2	+	1	1310	c.1111G>C	c.(1111-1113)Gat>Cat	p.D371H		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	371					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TTCTGATTTTGATGAAAAAGC	0.373000													11	53					0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27109519	27109519	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:27109519G>A	ENST00000229395.3	+	3	521	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.R60Q|FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.R60Q	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	60						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GCGAGACATCGGCCACGGTCC	0.363000													5	60					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549411	58549411	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:58549411C>G	ENST00000282326.1	+	3	454	c.207C>G	c.(205-207)ccC>ccG	p.P69P	ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTGAGGCCCGAGGCGCGCT	0.706000													7	7					0	0	1	0	0
SRSF12	135295	broad.mit.edu	37	6	89808556	89808556	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:89808556G>C	ENST00000452027.2	-	5	720	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	176	Arg/Ser-rich (RS domain).				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CCGTCCTCTAGAGCCAAAATT	0.438000													70	62					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187455218	187455218	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCGGCTTCGCCGTGGATT	0.637000													16	6					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319148	154319148	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:154319148G>A	ENST00000368489.3	+	26	3176	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1045					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCATCTGGGGAAGCCTTGCT	0.547000													4	107					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894522	15894522	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:15894522C>A	ENST00000375847.3	+	15	2363	c.2199C>A	c.(2197-2199)ctC>ctA	p.L733L	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Intron	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	733					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACTCTTCCCTCTACCTGGGTG	0.517000													7	46					0.0381472	0.0384095	1	1	0
FAM19A5	25817	broad.mit.edu	37	22	48972292	48972292	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:48972292G>A	ENST00000358295.5	+	0	175				FAM19A5_ENST00000402357.1_Intron|FAM19A5_ENST00000473898.1_3'UTR	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGGACTCCGCGATGCAGCTCC	0.697000													6	2					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891143	44891143	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:44891143G>C	ENST00000330997.4	-	4	1328	c.1264C>G	c.(1264-1266)Cac>Gac	p.H422D	ZNF285_ENST00000544719.2_Missense_Mutation_p.H422D|ZNF285_ENST00000591679.1_Missense_Mutation_p.H429D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCCTGTGTGAAACCTCCAG	0.502000													21	47					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269469	30269469	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:30269469G>C	ENST00000378981.3	+	4	1180	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	MAGEB1_ENST00000397550.1_Missense_Mutation_p.E287Q|MAGEB1_ENST00000397548.2_Missense_Mutation_p.E287Q	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	287	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAAGTCCTCGAGTTTTTGGC	0.512000													20	144					0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77047295	77047295	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:77047295C>G	ENST00000356341.3	-	13	1780	c.1249G>C	c.(1249-1251)Gag>Cag	p.E417Q	PAK1_ENST00000530617.1_Missense_Mutation_p.E417Q|PAK1_ENST00000528203.1_Missense_Mutation_p.E319Q|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.E417Q	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	417	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TTGCTCTGCTCTGGGGTTATC	0.463000													29	31					0	0	1	0	0
ITPA	3704	broad.mit.edu	37	20	3204021	3204021	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:3204021G>C	ENST00000380113.3	+	8	690	c.498G>C	c.(496-498)gaG>gaC	p.E166D	ITPA_ENST00000399838.3_Missense_Mutation_p.E125D|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Missense_Mutation_p.E149D	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	166					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GGTACGCAGAGATGCCTAAGG	0.592000													8	45					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36163133	36163133	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:36163133C>G	ENST00000303965.4	-	12	2702	c.2213G>C	c.(2212-2214)aGa>aCa	p.R738T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	738	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTAGACTTCTAACCTTGGA	0.363000													3	40					0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47602553	47602553	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:47602553G>C	ENST00000534716.2	+	4	416	c.398G>C	c.(397-399)tGa>tCa	p.*133S	NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000528192.1_Intron|NDUFS3_ENST00000263774.4_Intron			O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	0					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	TGGGAGATCTGAGAAGGTTTT	0.433000													36	10					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750577	79750577	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:79750577C>T	ENST00000305428.3	+	2	2163	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	696						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCCTGCGGGTCAAGGCCTTAA	0.542000													33	55					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37294531	37294531	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:37294531G>C	ENST00000231498.3	-	33	4033	c.3830C>G	c.(3829-3831)aCt>aGt	p.T1277S	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.T1218S|NUP155_ENST00000513532.1_Missense_Mutation_p.T1213S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1277					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGTTCAAAGTACAAACCTG	0.348000													12	126					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15643449	15643449	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:15643449C>T	ENST00000437605.2	+	9	783	c.533C>T	c.(532-534)tCt>tTt	p.S178F	AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.S178F	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	178	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GTGGCCTATTCTGCATATAAC	0.468000													5	123					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21353503	21353503	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:21353503G>A	ENST00000256958.2	+	9	1128	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTGCTTTTGACGTTGTTAC	0.323000													10	72					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75441871	75441871	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:75441871C>T	ENST00000297784.5	+	21	2630	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	TMC1_ENST00000340019.3_Missense_Mutation_p.S697L|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.S697L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	697					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGACAGCTTTCAAACCCTGGG	0.453000													8	150					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94461712	94461712	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:94461712C>A	ENST00000370225.3	-	49	6855	c.6769G>T	c.(6769-6771)Gac>Tac	p.D2257Y	ABCA4_ENST00000535881.1_Missense_Mutation_p.D376Y|ABCA4_ENST00000536513.1_Missense_Mutation_p.D527Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2257					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGAGGGAGGTCATGACTTTCA	0.512000													6	25					8.12818e-05	8.38168e-05	1	1	0
CHD9	80205	broad.mit.edu	37	16	53190890	53190890	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:53190890C>T	ENST00000566029.1	+	2	1098	c.889C>T	c.(889-891)Cat>Tat	p.H297Y	CHD9_ENST00000564845.1_Missense_Mutation_p.H297Y|CHD9_ENST00000447540.1_Missense_Mutation_p.H297Y|CHD9_ENST00000398510.3_Missense_Mutation_p.H297Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	297	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGCATCTAATCATACAAATCA	0.353000													10	80					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3533520	3533520	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:3533520C>T	ENST00000225519.3	-	2	391	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	97					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TTCCAAAACACGACTCCATGC	0.602000													5	34					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122763391	122763391	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:122763391C>G	ENST00000358808.2	-	22	3985	c.3831G>C	c.(3829-3831)aaG>aaC	p.K1277N	CLIP1_ENST00000545889.1_Missense_Mutation_p.K863N|CLIP1_ENST00000537178.1_Missense_Mutation_p.K1242N|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540338.1_Missense_Mutation_p.K1288N|CLIP1_ENST00000361654.4_Missense_Mutation_p.K1166N|CLIP1_ENST00000302528.7_Missense_Mutation_p.K1277N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1288					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTCCAAGTTCTTTACCTTGA	0.532000													15	18					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31125280	31125280	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:31125280G>C	ENST00000396268.3	-	1	286	c.98C>G	c.(97-99)tCa>tGa	p.S33*	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.S33*|CCHCR1_ENST00000376266.5_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCAAGGCCTGAGGGAAGCCC	0.597000													14	35					0	0	1	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45241147	45241147	+	Splice_Site	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:45241147A>C	ENST00000517296.3	+	13	1226		c.e13-1		ARHGAP8_ENST00000336963.4_Splice_Site|PRR5-ARHGAP8_ENST00000361473.5_Splice_Site|ARHGAP8_ENST00000389774.2_Splice_Site|ARHGAP8_ENST00000389773.5_Splice_Site|PRR5-ARHGAP8_ENST00000352766.7_Splice_Site|ARHGAP8_ENST00000356099.6_Splice_Site					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CTGTTTTCTCAGCCTCAAAGA	0.522000													6	29					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50050713	50050713	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:50050713C>G	ENST00000354234.4	+	6	1313	c.407C>G	c.(406-408)tCt>tGt	p.S136C	SETDB2_ENST00000317257.8_Missense_Mutation_p.S148C|SETDB2_ENST00000258672.5_Missense_Mutation_p.S136C	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	148					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CATGACTGCTCTGGTGCTTGT	0.388000													6	169					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125711	93125711	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:93125711G>C	ENST00000216487.7	+	7	2391	c.2232G>C	c.(2230-2232)caG>caC	p.Q744H	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	744	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGATCCTGCAGAAGTTCACCA	0.557000													16	18					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659531	152659531	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:152659531G>A	ENST00000368780.3	+	2	266	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	LCE2B_ENST00000417924.2_Missense_Mutation_p.C71Y	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	71	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGTGGCTGCTGCCTGAGC	0.667000													67	149					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57108465	57108465	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:57108465C>T	ENST00000454682.1	-	4	5947	c.5666G>A	c.(5665-5667)gGa>gAa	p.G1889E	NACA_ENST00000551793.1_5'UTR|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.G26E|NACA_ENST00000393891.4_Missense_Mutation_p.G26E|NACA_ENST00000550952.1_Missense_Mutation_p.G736E|NACA_ENST00000546392.1_Missense_Mutation_p.G26E|NACA_ENST00000552540.1_Missense_Mutation_p.G26E	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	26					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGATTCTGTTCCAGACCCTAA	0.443000			T	BCL6	NHL								23	36					0	0	1	0	0
CLDN5	7122	broad.mit.edu	37	22	19511503	19511503	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:19511503G>C	ENST00000406028.1	-	2	1591	c.531C>G	c.(529-531)ttC>ttG	p.F177L	CLDN5_ENST00000403084.1_Missense_Mutation_p.F177L|CLDN5_ENST00000413119.2_Missense_Mutation_p.F177L			O00501	CLD5_HUMAN	claudin 5	92					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					AGAGCGCAACGAACGCCAGCA	0.721000													3	10					0	0	1	0	0
NDUFA4	4697	broad.mit.edu	37	7	10979667	10979667	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:10979667G>T	ENST00000339600.5	-	1	216	c.18C>A	c.(16-18)atC>atA	p.I6I	NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	6					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	TGGCCTGACCGATGATCTGGC	0.547000													12	102					1.5842e-08	1.66373e-08	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714127	70714127	+	RNA	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:70714127G>C	ENST00000530196.1	-	0	391					NR_003951.1																						GAGGTGTCTAGAAACCAAGAG	0.502000													16	39					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73996862	73996862	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:73996862C>T	ENST00000331597.4	-	7	1147	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	P4HA3_ENST00000427714.2_Missense_Mutation_p.E368K	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	368						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					ACCCATGGTTCTGCAAGTTCT	0.493000													9	98					0	0	1	0	0
UBE2M	9040	broad.mit.edu	37	19	59067596	59067596	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:59067596C>G	ENST00000253023.3	-	6	990	c.412G>C	c.(412-414)Gag>Cag	p.E138Q		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	138					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGGTTGGGCTCCTGTGGCCAG	0.607000													15	55					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113405244	113405244	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:113405244G>A	ENST00000272542.3	+	4	1029	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	164					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTCTTGGTTCGTGTCCCCACT	0.358000													7	93					0	0	1	0	0
AUNIP	79000	broad.mit.edu	37	1	26163917	26163917	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:26163917G>A	ENST00000374298.3	-	2	261	c.207C>T	c.(205-207)ttC>ttT	p.F69F	AUNIP_ENST00000538789.1_Silent_p.F69F|AUNIP_ENST00000481602.1_5'UTR	NM_024037.1	NP_076942.1			aurora kinase A and ninein interacting protein																		GCTGCAAGGTGAAGAAGGAAG	0.403000													8	38					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186047318	186047318	+	Silent	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:186047318A>C	ENST00000271588.4	+	55	8794	c.8565A>C	c.(8563-8565)ggA>ggC	p.G2855G	HMCN1_ENST00000367492.2_Silent_p.G2855G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2855	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAGGCTGGAGAAGATTCCC	0.398000													6	24					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94522291	94522291	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:94522291G>T	ENST00000370225.3	-	15	2334	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	750					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGCTGAGCAGAAAGCACAGC	0.517000													8	12					0.000274275	0.000280571	1	1	0
BOK	666	broad.mit.edu	37	2	242511723	242511723	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:242511723C>T	ENST00000318407.3	+	5	827	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	175					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		p.L175L(1)		large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		CTGATGTCCTCAAGTGTGTGG	0.652000													7	9					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684167	100684167	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:100684167C>G	ENST00000306151.4	+	3	9534	c.9470C>G	c.(9469-9471)tCa>tGa	p.S3157*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3157	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCCAACCTCAACTCCTAGT	0.478000													59	272					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	81					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368180	111368180	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:111368180C>T	ENST00000375774.3	+	1	852	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	130					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCTCCCCGCTCAGCCCGGCCA	0.736000													5	7					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37176048	37176048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:37176048G>A	ENST00000274258.7	-	31	6168	c.2581C>T	c.(2581-2583)Caa>Taa	p.Q861*	C5orf42_ENST00000508244.1_Nonsense_Mutation_p.Q1981*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1981*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1981								p.Q861K(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCATTGATTGAGGAGTGGTA	0.328000													34	295					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975905	37975905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:37975905C>T	ENST00000330173.1	+	5	1910	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q517*|ZNF570_ENST00000388801.3_Nonsense_Mutation_p.Q258*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCAACATCAGCGAGTTCA	0.423000													6	103					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788374	140788374	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:140788374G>A	ENST00000520790.1	+	1	605	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTAGACCGGGAAGAACAG	0.423000													9	9					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179504085	179504085	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:179504085T>C	ENST00000367618.3	+	25	3406	c.3019T>C	c.(3019-3021)Tct>Cct	p.S1007P		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1007										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTCCTCAAAATCTCCAAAGAA	0.323000													15	31					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930814	144930814	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:144930814C>G	ENST00000529945.1	-	1	1334	c.895G>C	c.(895-897)Gat>Cat	p.D299H	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D299H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTTATAATCAAGACCTTTA	0.502000			T	PDGFRB	MPD								21	131					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168427	16168427	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:16168427G>C	ENST00000380289.2	+	2	811		c.e2-1			NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor						cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCTGCCCTAGATACAAAGCC	0.488000													4	81					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10599872	10599872	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:10599872G>A	ENST00000171111.5	-	5	2251	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	KEAP1_ENST00000393623.2_Silent_p.V568V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCTCACCAAGGACGTAGATTC	0.502000													5	33					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36851365	36851365	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:36851365C>G	ENST00000270001.7	-	4	322	c.207G>C	c.(205-207)gtG>gtC	p.V69V	ZFP14_ENST00000589280.1_Silent_p.V70V	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCCCTTCCCTCACAACCATCC	0.443000													10	69					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11308146	11308146	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:11308146C>G	ENST00000361445.4	-	7	922	c.846G>C	c.(844-846)ctG>ctC	p.L282L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	282					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTTCTTCTCTCAGACGCTATA	0.423000													12	70					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55519234	55519234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:55519234G>A	ENST00000219070.4	+	4	1062	c.553G>A	c.(553-555)Gac>Aac	p.D185N	MMP2_ENST00000543485.1_Missense_Mutation_p.D109N|MMP2_ENST00000570308.1_Missense_Mutation_p.D109N|MMP2_ENST00000437642.2_Missense_Mutation_p.D135N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	185	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ATACCCCTTTGACGGTAAGGA	0.562000													9	61					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77921545	77921545	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:77921545C>T	ENST00000310924.2	-	9	1742	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	TBC1D16_ENST00000340848.7_Missense_Mutation_p.E181K|TBC1D16_ENST00000572862.1_Missense_Mutation_p.E181K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E168K|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E182K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	543	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TCCAGGACCTCGGCCAAGATG	0.587000													7	40					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5780799	5780799	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:5780799C>G	ENST00000425013.2	-	4	902	c.678G>C	c.(676-678)ggG>ggC	p.G226G	RNF216_ENST00000389902.3_Silent_p.G283G	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	226					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGCCTGAAATCCCACCTTGCT	0.557000													8	80					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22211278	22211278	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:22211278C>G	ENST00000374695.3	-	12	1568	c.1489G>C	c.(1489-1491)Gag>Cag	p.E497Q		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	497	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGACGAGCTCAAGGACACCG	0.652000													4	12					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17088107	17088107	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:17088107G>C	ENST00000357277.3	+	11	1495	c.1324G>C	c.(1324-1326)Gag>Cag	p.E442Q	REPS2_ENST00000303843.7_Missense_Mutation_p.E441Q|REPS2_ENST00000380064.4_Missense_Mutation_p.E302Q	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	442					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GGACGTGTCTGAGGATCCAGG	0.299000													4	48					0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40732352	40732352	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:40732352T>G	ENST00000430325.2	-	1	245	c.197A>C	c.(196-198)gAg>gCg	p.E66A	CNTD2_ENST00000433940.1_Missense_Mutation_p.E66A	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	66					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CAGCGCCTCCTCCAGCCCCGG	0.726000													3	15					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142094679	142094679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:142094679G>T	ENST00000264951.4	-	25	3056	c.2939C>A	c.(2938-2940)tCa>tAa	p.S980*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.S980*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	980					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.S980L(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGCTGCAGATGAATACATCCA	0.343000													36	58					2.91434e-09	3.07958e-09	1	1	0
ARHGAP8	23779	broad.mit.edu	37	22	45182344	45182344	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:45182344G>A	ENST00000517296.3	+	8	699	c.699G>A	c.(697-699)caG>caA	p.Q233Q	ARHGAP8_ENST00000336963.4_5'UTR|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Q110Q|ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000389774.2_5'UTR|ARHGAP8_ENST00000389773.5_Silent_p.Q101Q|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Q233Q|ARHGAP8_ENST00000356099.6_5'UTR					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGAGCTGCAGAGAGACAAGG	0.597000													3	7					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95895084	95895084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:95895084C>A	ENST00000520509.1	-	10	1120	c.868G>T	c.(868-870)Gag>Tag	p.E290*	CCNE2_ENST00000308108.4_Nonsense_Mutation_p.E290*|CCNE2_ENST00000396133.3_Nonsense_Mutation_p.E290*			O96020	CCNE2_HUMAN	cyclin E2	290					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TACTGGAACTCTAATGAATCA	0.378000													13	124					1.05317e-09	1.11749e-09	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175041	57175041	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:57175041G>T	ENST00000537055.2	-	2	1757	c.1526C>A	c.(1525-1527)cCt>cAt	p.P509H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGTTGAGTCAGGCGTGGGAGC	0.627000													39	101					3.61848e-18	3.92896e-18	1	1	0
ADAM21	8747	broad.mit.edu	37	14	70924467	70924467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:70924467C>G	ENST00000603540.1	+	2	509	c.251C>G	c.(250-252)tCt>tGt	p.S84C	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S84C	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	84					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTTAGTTTCTAGACACCTC	0.512000													6	70					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892342	58892342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:58892342G>T	ENST00000343597.3	+	4	963	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	FAM111B_ENST00000529618.1_Nonsense_Mutation_p.E228*|FAM111B_ENST00000411426.1_Nonsense_Mutation_p.E228*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	258							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CATGGTGGATGAAGTATCTGG	0.338000													18	44					6.49762e-13	6.99586e-13	1	1	0
NEO1	4756	broad.mit.edu	37	15	73558736	73558736	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:73558736G>C	ENST00000339362.5	+	17	2925	c.2478G>C	c.(2476-2478)gtG>gtC	p.V826V	NEO1_ENST00000560262.1_Silent_p.V826V|NEO1_ENST00000558964.1_Silent_p.V826V|NEO1_ENST00000261908.6_Silent_p.V826V			Q92859	NEO1_HUMAN	neogenin 1	826	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGAGTGCTGTGACCAGGCCTC	0.463000													8	69					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072252	134072252	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:134072252A>C	ENST00000264360.5	+	1	1783	c.957A>C	c.(955-957)gaA>gaC	p.E319D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 3.				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)		TGGACTATGAAGAGAGCCCAG	0.607000													30	34					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50361877	50361877	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:50361877G>A	ENST00000391842.1	+	10	1178	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	PTOV1_ENST00000221557.9_Silent_p.L304L|PTOV1_ENST00000601638.1_Silent_p.L304L|PTOV1_ENST00000599732.1_Silent_p.L336L|PTOV1_ENST00000600603.1_Silent_p.L304L|PTOV1_ENST00000601675.1_Silent_p.L336L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000599259.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	336	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TGGAGACACTGAAGAGCCTGT	0.672000													10	6					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342585	40342585	+	Silent	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:40342585A>G	ENST00000406785.2	-	8	2811	c.2622T>C	c.(2620-2622)tcT>tcC	p.S874S	SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.S902S|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.S905S|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.S874S|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.S874S|SLC8A1_ENST00000403092.1_Silent_p.S910S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.S905S|SLC8A1_ENST00000332839.4_Silent_p.S910S|SLC8A1_ENST00000406391.2_Silent_p.S874S|SLC8A1_ENST00000405269.1_Silent_p.S874S|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGAGAGTGACAGAGAAAGCTA	0.567000													17	29					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95735691	95735691	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:95735691C>T	ENST00000311106.3	-	10	1633	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PCSK1_ENST00000508626.1_Missense_Mutation_p.E419K|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	466					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAACACACTCTTTCTTCTCA	0.443000													12	4					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179236888	179236888	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:179236888G>C	ENST00000190611.4	+	14	1699	c.1323G>C	c.(1321-1323)ttG>ttC	p.L441F	OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L466F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.L445F|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L410F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	441					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGAGTCGGTTGAACAGAATAC	0.328000													35	36					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17791318	17791318	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:17791318C>G	ENST00000380607.4	+	7	834	c.714C>G	c.(712-714)gtC>gtG	p.V238V	SH3GL2_ENST00000537391.1_Silent_p.V191V	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	238	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AAGTCACGGTCAGACTGGAAG	0.418000													40	10					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072209	34072209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:34072209C>G	ENST00000382499.2	-	4	534	c.535G>C	c.(535-537)Gat>Cat	p.D179H	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D179H|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D140H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D140H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D140H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	140	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGACTCAAATCTAAACTGATG	0.383000													4	63					0	0	1	0	0
RAB3B	5865	broad.mit.edu	37	1	52399020	52399020	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:52399020C>T	ENST00000371655.3	-	4	654	c.442G>A	c.(442-444)Gag>Aag	p.E148K		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	148					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TGGCCCTTCTCAGTGGGAACA	0.488000													12	59					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118579777	118579777	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:118579777G>C	ENST00000263239.2	+	7	1134	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	336	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATGAAGCTGATCGTATCTT	0.358000													13	50					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561505	11561505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:11561505C>G	ENST00000294484.6	+	2	594	c.456C>G	c.(454-456)atC>atG	p.I152M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.I152M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	152					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCGCCTTATCTCAGAGCAGC	0.667000													7	20					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066420	9066420	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:9066420G>C	ENST00000397910.4	-	3	21229	c.21026C>G	c.(21025-21027)tCc>tGc	p.S7009C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7011	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCTTGTGGATATTTCTGG	0.517000													31	163					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104150	53104150	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:53104150C>T	ENST00000408890.4	+	1	802	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	262										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGCCCCATCCGCCATCTGGG	0.657000													12	62					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1667492	1667492	+	Silent	SNP	C	C	A	rs80053278	by1000genomes	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:1667492C>A	ENST00000252804.4	-	12	1502	c.1452G>T	c.(1450-1452)tcG>tcT	p.S484S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	484	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TAAGTGTTCCCGATGACAGGA	0.617000													32	78					2.42023e-17	2.62512e-17	1	1	0
TRIO	7204	broad.mit.edu	37	5	14304687	14304687	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:14304687C>G	ENST00000344204.4	+	8	1510	c.1486C>G	c.(1486-1488)Ctt>Gtt	p.L496V	TRIO_ENST00000537187.1_Missense_Mutation_p.L496V|TRIO_ENST00000509967.2_Missense_Mutation_p.L447V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	496					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACATATCACTCTTGCTTATTC	0.423000													11	283					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122778431	122778431	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:122778431G>A	ENST00000245838.8	-	15	1687	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	THOC2_ENST00000491737.1_Silent_p.I437I|THOC2_ENST00000355725.4_Silent_p.I552I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	552					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTACTTCATGATATATTTGG	0.303000													25	29					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67404973	67404973	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67404973G>T	ENST00000329956.6	+	9	1341	c.1322G>T	c.(1321-1323)gGa>gTa	p.G441V	LRRC36_ENST00000563189.1_Missense_Mutation_p.G320V|LRRC36_ENST00000290940.7_Missense_Mutation_p.G173V|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G320V	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	441										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GCTGTCCTGGGAAACAGGACA	0.478000													17	36					4.14922e-12	4.45802e-12	1	1	0
PPFIA1	8500	broad.mit.edu	37	11	70218446	70218446	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:70218446G>C	ENST00000253925.7	+	22	3206	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.L997F	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	997	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGACCACTTGACCAAGAAAG	0.502000													30	25					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170632292	170632292	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:170632292C>A	ENST00000476287.1	+	3	1968	c.1860C>A	c.(1858-1860)ttC>ttA	p.F620L	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.F643L|FAM120B_ENST00000540480.1_Missense_Mutation_p.F632L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	620					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCCAGGCCTTCATTTACCGTC	0.488000													17	47					9.16793e-09	9.64798e-09	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74512955	74512955	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:74512955C>T	ENST00000394019.2	-	8	743	c.346G>A	c.(346-348)Gag>Aag	p.E116K	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E116K|SLC4A5_ENST00000423644.1_Missense_Mutation_p.E116K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.E116K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E52K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E52K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E116K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E116K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	116						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTATCCATCTCTGTAAAGAGG	0.617000													9	16					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110490614	110490614	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:110490614G>A	ENST00000324068.1	-	12	1892	c.1725C>T	c.(1723-1725)gaC>gaT	p.D575D	CAPN6_ENST00000541758.1_Silent_p.D320D	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	575	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAATAGGAATGTCAGTGGTCC	0.423000													32	142					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502518	16502518	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:16502518G>T	ENST00000396652.1	-	5	1060	c.348C>A	c.(346-348)atC>atA	p.I116I	SOSTDC1_ENST00000307068.4_Silent_p.I92I			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	92	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCAGAGGGCTGATGCTGGTGC	0.547000													4	63					0.00024832	0.000254274	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132202409	132202409	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:132202409A>G	ENST00000260818.6	+	28	3418	c.3170A>G	c.(3169-3171)tAt>tGt	p.Y1057C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1057							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATGTGTGGATATTTTCCAAGC	0.393000													26	39					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103106477	103106477	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:103106477C>G	ENST00000375735.2	+	62	9788	c.9644C>G	c.(9643-9645)tCt>tGt	p.S3215C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S3215C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3215					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACATATCTTTCTGCTGCTCCT	0.388000													7	36					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707483	6707483	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:6707483C>G	ENST00000245907.6	-	16	2133	c.2041G>C	c.(2041-2043)Gac>Cac	p.D681H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	681				D -> N (in Ref. 5; AA sequence).	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCACCTTTGTCCATTCGCTTC	0.682000													5	63					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71010045	71010045	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:71010045G>C	ENST00000354624.5	+	11	1703		c.e11-1		HKDC1_ENST00000395086.2_Splice_Site	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCACAGAGAAAGGAAA	0.562000													65	83					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46290638	46290638	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:46290638C>G	ENST00000359930.4	-	18	3224	c.2373G>C	c.(2371-2373)ctG>ctC	p.L791L	SULF2_ENST00000361612.4_Silent_p.L791L|SULF2_ENST00000484875.1_Silent_p.L791L|SULF2_ENST00000467815.1_Silent_p.L791L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	791					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGCATTCATCAGCTGGTTGC	0.532000													9	92					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122928200	122928200	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:122928200C>G	ENST00000309934.4	+	1	1032	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	SEC22A_ENST00000492595.1_Missense_Mutation_p.Q46E|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Missense_Mutation_p.Q46E	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	46	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GAAACTTGCTCAACTTCCTGA	0.373000													36	41					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092003	143092003	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:143092003C>G	ENST00000367603.2	-	5	4615	c.3873G>C	c.(3871-3873)aaG>aaC	p.K1291N	HIVEP2_ENST00000367604.1_Missense_Mutation_p.K1291N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K1291N	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAGAAGGTTCTTTGGGTGTA	0.488000													27	152					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318292	46318292	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:46318292G>A	ENST00000221538.3	-	1	285	c.143C>T	c.(142-144)cCa>cTa	p.P48L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P48L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	48						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTGGGCGTCTGGAGGTATCTG	0.672000													8	48					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734657	39734657	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:39734657G>A	ENST00000413851.2	-	3	437	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_172139.2	NP_742151.2			interferon, lambda 3																		CACAGGCCCGGAGCTGGGAGA	0.667000													6	51					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635733	33635733	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:33635733C>G	ENST00000380099.3	+	4	2525	c.2517C>G	c.(2515-2517)ctC>ctG	p.L839L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	839	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCACGTGGCTCAACTCCCCCA	0.468000													26	66					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61552524	61552524	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:61552524G>A	ENST00000398571.2	-	21	3075	c.2999C>T	c.(2998-3000)tCa>tTa	p.S1000L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1000					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGATCAGGTGATCCCAGAGT	0.289000													4	55					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41168327	41168327	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:41168327C>T	ENST00000355653.3	-	5	1190	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	VAT1_ENST00000420567.3_Silent_p.E231E|VAT1_ENST00000587173.1_Silent_p.E297E	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	365						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CATTCACCTTCTCGAAGGGCC	0.602000													4	44					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25982503	25982503	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:25982503T>C	ENST00000435504.4	-	9	1080	c.787A>G	c.(787-789)Aga>Gga	p.R263G	ASXL2_ENST00000272341.4_Missense_Mutation_p.R3G|ASXL2_ENST00000404843.1_Missense_Mutation_p.R3G|ASXL2_ENST00000336112.4_Missense_Mutation_p.R235G			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTAGTTCTTTTCATTTGT	0.403000													28	40					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89828369	89828369	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:89828369G>A	ENST00000389301.3	-	29	2870	c.2840C>T	c.(2839-2841)tCa>tTa	p.S947L	FANCA_ENST00000568369.1_Missense_Mutation_p.S947L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	947					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCAGTATCTGAAAGAGCATC	0.468000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	92					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30677859	30677859	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:30677859G>A	ENST00000356166.6	+	12	2888	c.1800G>A	c.(1798-1800)ttG>ttA	p.L600L	FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000287468.5_Silent_p.L80L|FBRS_ENST00000568722.1_Intron			Q9HAH7	FBRS_HUMAN	fibrosin	80										ovary(1)	1			Colorectal(24;0.103)			GGCCACCTTTGAGGGTGAGTT	0.587000													6	114					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127951943	127951943	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:127951943G>C	ENST00000451402.1	-	1	275	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000415905.1_Missense_Mutation_p.L19V|PPP6C_ENST00000373547.4_Missense_Mutation_p.L19V	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	19					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTCTCTGGCAGGTACTTGCAC	0.647000													17	29					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22294226	22294226	+	RNA	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:22294226C>G	ENST00000390432.2	+	0	366																											CCTCCTACATCTGTGTGGTGA	0.512000													24	10					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947801	165947801	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:165947801C>G	ENST00000360093.3	-	28	5353	c.4862G>C	c.(4861-4863)cGa>cCa	p.R1621P	SCN3A_ENST00000540861.1_Missense_Mutation_p.R104P|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1572P|SCN3A_ENST00000283254.7_Missense_Mutation_p.R1621P|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1621						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACGGATCACTCGGAACAAGGT	0.453000													43	33					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57298051	57298051	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:57298051G>A	ENST00000284116.4	+	1	218	c.81G>A	c.(79-81)ccG>ccA	p.P27P	GDPD1_ENST00000581276.1_Silent_p.P27P|GDPD1_ENST00000581140.1_Silent_p.P27P	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	27					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTAAATACCCGACCTTGCTGC	0.542000											OREG0024617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	156					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19823498	19823498	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:19823498C>G	ENST00000344099.3	-	4	730	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGCTTACATTCATAGGGTTTC	0.378000													24	56					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547236	28547236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:28547236C>G	ENST00000357727.2	+	4	562	c.172C>G	c.(172-174)Caa>Gaa	p.Q58E	CREB5_ENST00000396300.2_Missense_Mutation_p.Q51E|CREB5_ENST00000396299.2_Missense_Mutation_p.Q25E|CREB5_ENST00000409603.1_Missense_Mutation_p.Q25E	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	58					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GTTTTCAGATCAAACTCCGAC	0.512000													45	187					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876466	39876466	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:39876466G>C	ENST00000530275.1	+	1	316	c.121G>C	c.(121-123)Gaa>Caa	p.E41Q	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	41	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCATTAACAGAAAGTTCTGG	0.438000													8	39					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40939190	40939190	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:40939190G>C	ENST00000346991.5	+	18	6480	c.6090G>C	c.(6088-6090)gaG>gaC	p.E2030D	CASC5_ENST00000399668.2_Missense_Mutation_p.E2004D			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2030	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTAGAATGAGAGGGAGAAAC	0.308000													5	25					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113524349	113524349	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:113524349A>C	ENST00000273398.3	+	14	1846	c.1738A>C	c.(1738-1740)Aaa>Caa	p.K580Q	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.K547Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	580					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATCCTCTATAAACTTTCCTC	0.348000													49	35					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128346127	128346127	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:128346127C>G	ENST00000389524.4	+	15	1904	c.1851C>G	c.(1849-1851)ttC>ttG	p.F617L	MYO7B_ENST00000409816.2_Missense_Mutation_p.F617L|MYO7B_ENST00000428314.1_Missense_Mutation_p.F617L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	617	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCATCTCTTCAAGGTGGGCT	0.542000													6	39					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83723935	83723935	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:83723935A>G	ENST00000297977.5	-	3	907	c.796T>C	c.(796-798)Ttt>Ctt	p.F266L	HDX_ENST00000506585.2_Missense_Mutation_p.F208L|HDX_ENST00000373177.2_Missense_Mutation_p.F266L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCCAATGAAAACACTTCACGG	0.453000													14	72					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	844769	844769	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:844769C>T	ENST00000314167.4	-	26	3722	c.3612G>A	c.(3610-3612)atG>atA	p.M1204I	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.M1125I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1204					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.M1204I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCTGCTTCCTCATCTCTGCAA	0.542000													16	106					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141816473	141816473	+	Missense_Mutation	SNP	G	G	C	rs67666966		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:141816473G>C	ENST00000389484.3	-	9	2358	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	463					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)		GTTCTTTTTTGATAAATTCGG	0.343000										TSP Lung(27;0.18)			6	47					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113052380	113052380	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:113052380G>C	ENST00000375699.3	+	2	248	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	SPACA7_ENST00000283550.3_Missense_Mutation_p.E57Q			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	57						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TCTGGTCCAGGAGATTTTAGA	0.483000													10	151					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101096684	101096684	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:101096684C>T	ENST00000537026.1	-	5	561	c.202G>A	c.(202-204)Gat>Aat	p.D68N	NXF5_ENST00000473265.2_Missense_Mutation_p.D68N|NXF5_ENST00000361708.2_Missense_Mutation_p.D68N	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	68	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TAACTGACATCCTTCAATGCA	0.502000													29	82					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135782175	135782175	+	Missense_Mutation	SNP	C	C	T	rs118203520		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:135782175C>T	ENST00000298552.3	-	14	1602	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	TSC1_ENST00000545250.1_Missense_Mutation_p.G410R|TSC1_ENST00000440111.2_Missense_Mutation_p.G461R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	461					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTAAAAACCCTGGAAGATCA	0.398000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	49					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59760886	59760886	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:59760886C>G	ENST00000259008.2	-	20	3788	c.3521G>C	c.(3520-3522)aGa>aCa	p.R1174T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1174					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						TTTTATAGTTCTAATTTCAAA	0.318000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					17	208					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78148904	78148904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:78148904C>T	ENST00000566780.1	+	4	628	c.262C>T	c.(262-264)Cca>Tca	p.P88S	WWOX_ENST00000539474.2_Missense_Mutation_p.P88S|WWOX_ENST00000406884.2_Missense_Mutation_p.P88S|WWOX_ENST00000402655.2_Missense_Mutation_p.P88S|WWOX_ENST00000408984.3_Missense_Mutation_p.P88S|WWOX_ENST00000355860.3_Missense_Mutation_p.P88S	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	88	WW 2.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CTACTTGGACCCAAGACTGGC	0.468000													24	86					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160252287	160252287	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:160252287C>G	ENST00000368072.5	-	4	373	c.352G>C	c.(352-354)Gat>Cat	p.D118H	DCAF8_ENST00000608310.1_Intron|PEX19_ENST00000440949.3_Missense_Mutation_p.D28H|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTCATATCACTGCCTAGG	0.423000													21	100					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187066	123187066	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:123187066G>A	ENST00000328880.5	-	1	824	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	255					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GCAGGAGCCAGAAGATGCGGA	0.542000													8	39					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260668	16260668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:16260668C>G	ENST00000375759.3	+	11	8137	c.7933C>G	c.(7933-7935)Caa>Gaa	p.Q2645E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2645	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACCAGCTCCTCAAACCCTCAC	0.537000													14	83					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031102	21031102	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:21031102C>G	ENST00000247986.2	-	5	1271	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	KIF17_ENST00000375044.1_Missense_Mutation_p.E221Q|KIF17_ENST00000400463.3_Missense_Mutation_p.E321Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	321					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGAGTGTCTCATCGTAGTTG	0.617000													23	23					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025181	86025181	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:86025181C>T	ENST00000414626.2	+	3	1220	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	LRRCC1_ENST00000360375.3_Missense_Mutation_p.H131Y			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	131					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATTCCCCTTCATGGAATTAA	0.328000													4	57					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96318705	96318705	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:96318705C>T	ENST00000277165.6	+	13	2510	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	FAM120A_ENST00000333936.5_Silent_p.L800L|FAM120A_ENST00000340893.4_Silent_p.L772L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	772						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TATCAGCTCTCTTCATGAGTG	0.408000													15	106					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128356	83128356	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:83128356C>A	ENST00000329312.4	+	4	677	c.640C>A	c.(640-642)Cta>Ata	p.L214I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	214					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CACTGAATTCCTACATACAAA	0.303000													8	17					0.00307968	0.00311924	1	1	0
CDH11	1009	broad.mit.edu	37	16	65005962	65005962	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:65005962G>C	ENST00000394156.3	-	10	1849	c.1396C>G	c.(1396-1398)Cgg>Ggg	p.R466G	CDH11_ENST00000566827.1_Missense_Mutation_p.R340G|CDH11_ENST00000268603.4_Missense_Mutation_p.R466G			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCTGATGCCGATTGTCTGGG	0.478000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	24					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30315353	30315353	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:30315353C>T	ENST00000322652.5	+	10	1267	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SUZ12_ENST00000580398.1_Silent_p.F323F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	346					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGCCTCCATTCGAAACATTTT	0.363000			T	JAZF1	endometrial stromal tumours								11	83					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83444700	83444700	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:83444700G>C	ENST00000549919.1	+	11	3957	c.2152G>C	c.(2152-2154)Gaa>Caa	p.E718Q	TMTC2_ENST00000321196.3_Missense_Mutation_p.E724Q			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	724						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCTTCTGGAAGAAGCTCGTCT	0.393000													6	31					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509095	106509095	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:106509095C>G	ENST00000359195.3	+	2	1399	c.1089C>G	c.(1087-1089)gtC>gtG	p.V363V	PIK3CG_ENST00000496166.1_Silent_p.V363V|PIK3CG_ENST00000440650.2_Silent_p.V363V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	363					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGTTCAGGGTCAAGATCAGAG	0.557000													20	54					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987671	223987671	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:223987671G>A	ENST00000391878.2	-	12	1796	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S472F|TP53BP2_ENST00000498843.1_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	466	Interaction with APPBP1.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TGGGGCATTGGACTGGTCTAC	0.433000													30	38					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886542	6886542	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:6886542G>C	ENST00000203629.2	+	6	1503	c.1170G>C	c.(1168-1170)caG>caC	p.Q390H		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	390	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCCATCCCAGAGGAGTTTCT	0.587000													25	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:7578382G>C	ENST00000420246.2	-	5	680	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCGCTATCTGAGCAGCGCTC	0.647000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	6					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43022071	43022071	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43022071G>A	ENST00000388752.3	-	7	1283	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	MRPL2_ENST00000230413.5_3'UTR|MRPL2_ENST00000489623.1_3'UTR	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	287					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGTAGTGGCCGAATCTTTCGG	0.592000													7	121					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18338455	18338455	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:18338455C>G	ENST00000251900.4	-	6	642	c.483G>C	c.(481-483)aaG>aaC	p.K161N		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	161					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCTTACCTTCTTAAATAATG	0.348000													28	64					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224340961	224340961	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:224340961G>C	ENST00000366862.5	+	4	677	c.634G>C	c.(634-636)Gat>Cat	p.D212H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	212										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGAGTACTTTGATGAAAAGAT	0.393000													3	76					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442637	61442637	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:61442637T>G	ENST00000261249.6	-	4	1384	c.1000A>C	c.(1000-1002)Aaa>Caa	p.K334Q	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	334						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AACAGCCATTTATGAGATTCA	0.403000													32	39					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334288	21334288	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:21334288G>A	ENST00000359039.4	-	1	1091	c.571C>T	c.(571-573)Cta>Tta	p.L191L	KLHL9_ENST00000537938.1_Silent_p.L123L			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	191	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGGAGTTTTAGAAACTCCCCA	0.388000													38	7					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75279565	75279565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:75279565G>A	ENST00000339859.4	-	18	2768	c.2668C>T	c.(2668-2670)Cag>Tag	p.Q890*	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000422491.2_Nonsense_Mutation_p.Q72*|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_Intron|USP54_ENST00000428547.1_Nonsense_Mutation_p.Q740*|USP54_ENST00000408019.1_Nonsense_Mutation_p.Q890*|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	890					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTTGTTGGCTGAGAGAGAGTC	0.542000													4	19					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739904	205739904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:205739904C>T	ENST00000367139.3	-	5	760	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	RAB7L1_ENST00000235932.4_Missense_Mutation_p.E153K|RAB7L1_ENST00000437324.2_Missense_Mutation_p.E81K|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.E129K|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E153K	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	153					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACTGATGTTTCTGTCCAACCT	0.448000													24	30					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969051	49969051	+	Missense_Mutation	SNP	G	G	A	rs143931782	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:49969051G>A	ENST00000293350.4	+	13	1788	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R491Q|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R379Q|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R377Q	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	542							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTGGGGCCCGAAGCTCCAGG	0.657000													14	29					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090367	34090367	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:34090367G>C	ENST00000397527.1	+	30	4890	c.4170G>C	c.(4168-4170)ctG>ctC	p.L1390L	CEP250_ENST00000342580.4_Silent_p.L1334L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1390	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CACTGAAGCTGAAAAATGAGG	0.562000													3	24					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791407	44791407	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:44791407G>A	ENST00000291182.4	-	5	2283	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCTGATGGTAGATGAGATGTG	0.483000													18	43					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33063167	33063167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:33063167C>G	ENST00000286835.7	-	15	2210	c.1828G>C	c.(1828-1830)Gag>Cag	p.E610Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E595Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E610Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	610						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCAGTTCCTCAGGCTTGACT	0.393000													25	94					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292295	33292295	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:33292295C>G	ENST00000280979.4	+	13	5446	c.5276C>G	c.(5275-5277)tCt>tGt	p.S1759C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1759					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTCCAGCTCTACCCTTACC	0.453000													18	38					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159825786	159825786	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:159825786G>A	ENST00000368100.1	-	6	993	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	286						integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					agcagcAGACGAGCCCCCAGA	0.726000													6	8					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42684037	42684037	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:42684037G>C	ENST00000232978.8	+	14	4279	c.4091G>C	c.(4090-4092)aGa>aCa	p.R1364T	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1364					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGGTACAGCAGAGGCCGAACC	0.423000													20	35					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	36007600	36007600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:36007600G>C	ENST00000297866.5	+	16	2944	c.2878G>C	c.(2878-2880)Gag>Cag	p.E960Q		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	960										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTTTGTTTTGAGGGCTATGA	0.328000													23	62					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14481697	14481697	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:14481697G>C	ENST00000344204.4	+	45	6459	c.6435G>C	c.(6433-6435)atG>atC	p.M2145I	TRIO_ENST00000537187.1_Missense_Mutation_p.M2145I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2145	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAACGACATGATGAACGTGG	0.483000													37	234					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352015	113352015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:113352015G>A	ENST00000458497.1	+	11	1591	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	ALPK1_ENST00000177648.9_Missense_Mutation_p.E438K|ALPK1_ENST00000504176.2_Missense_Mutation_p.E360K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	438							ATP binding|protein serine/threonine kinase activity	p.E438K(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGAGAGTTTCGAGTGCAGGTT	0.413000													7	66					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186089219	186089219	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:186089219G>A	ENST00000271588.4	+	80	12400	c.12171G>A	c.(12169-12171)atG>atA	p.M4057I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M4057I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4057	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCACTTACATGTGTGTGGCCC	0.448000													38	13					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26862157	26862157	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:26862157G>C	ENST00000226247.2	+	7	1597	c.1568G>C	c.(1567-1569)gGa>gCa	p.G523A	FOXN1_ENST00000579795.1_Missense_Mutation_p.G523A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	523					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTGCCAGATGGAGACCTTGGC	0.622000													7	39					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808382	48808382	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:48808382A>C	ENST00000309835.3	+	1	620	c.610A>C	c.(610-612)Aaa>Caa	p.K204Q	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K204Q|STON1_ENST00000404752.1_Missense_Mutation_p.K204Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K204Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K204Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K204Q|STON1_ENST00000406226.1_Missense_Mutation_p.K204Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K204Q					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAGGAAGCAAAAAGATGTT	0.413000													16	39					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367717	142367717	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:142367717C>G	ENST00000377741.3	-	2	397	c.307G>C	c.(307-309)Ggg>Cgg	p.G103R		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	103						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGGGACAGCCCTACCAGTAGA	0.632000													5	61					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129051	40129051	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:40129051G>C	ENST00000235628.1	-	4	488	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	163					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATAGGCCTTGAGGTAGCAGA	0.532000													16	20					0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168589	74168589	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:74168589G>A	ENST00000310128.4	-	3	439	c.20C>T	c.(19-21)aCg>aTg	p.T7M	KCNE3_ENST00000525550.1_Missense_Mutation_p.T7M|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	7						integral to membrane	voltage-gated potassium channel activity	p.T7M(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCAGGTCTCCGTTCCATTGGT	0.567000													5	33					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49031133	49031133	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:49031133G>A	ENST00000380950.2	-	27	4633	c.4446C>T	c.(4444-4446)ctC>ctT	p.L1482L	CEP152_ENST00000399334.3_Silent_p.L1426L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1426					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTATCACTGAGTAGGTCTT	0.453000													11	46					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50267156	50267156	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:50267156G>A	ENST00000298310.5	-	23	2803	c.2354C>T	c.(2353-2355)tCt>tTt	p.S785F	NEMF_ENST00000546046.1_Missense_Mutation_p.S764F|NEMF_ENST00000545773.1_Missense_Mutation_p.S743F|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	785						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTGAAGGTGAGACAAGTCAAT	0.333000													8	8					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220397128	220397128	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:220397128C>G	ENST00000358078.4	+	4	1342	c.1328C>G	c.(1327-1329)tCt>tGt	p.S443C	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.S443C			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	443						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TACAGTGTGTCTGCCTGCCGG	0.677000													14	9					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44166359	44166359	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:44166359C>T	ENST00000417257.1	-	14	1613	c.1437G>A	c.(1435-1437)ctG>ctA	p.L479L	FRMD5_ENST00000402883.1_Silent_p.L479L|FRMD5_ENST00000484674.1_Silent_p.L385L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	479						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAGGGCCCTCAGCTCTCCCC	0.587000													7	41					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33574744	33574744	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:33574744C>A	ENST00000262873.7	+	13	1178	c.1086C>A	c.(1084-1086)gtC>gtA	p.V362V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	320	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCAGGGCGTCATCACCGTGG	0.592000													19	40					1.64113e-05	1.70605e-05	1	1	0
PTPRK	5796	broad.mit.edu	37	6	128410869	128410869	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:128410869C>T	ENST00000368227.3	-	8	1797	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	PTPRK_ENST00000532331.1_Silent_p.E477E|PTPRK_ENST00000368215.3_Silent_p.E477E|PTPRK_ENST00000368207.3_Silent_p.E477E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Silent_p.E477E|PTPRK_ENST00000368213.5_Silent_p.E477E|PTPRK_ENST00000368226.4_Silent_p.E477E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	477	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTCTTCACTCTCCTTCCTTC	0.413000													14	58					0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8358153	8358153	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:8358153C>T	ENST00000334527.7	+	7	937	c.740C>T	c.(739-741)tCt>tTt	p.S247F	NDEL1_ENST00000299734.7_Missense_Mutation_p.S247F|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.S247F|NDEL1_ENST00000380025.4_Missense_Mutation_p.S247F	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	247	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTAACTCCCTCTGCTAGGATA	0.398000													120	30					0	0	1	0	0
MAK16	84549	broad.mit.edu	37	8	33354239	33354239	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:33354239G>A	ENST00000360128.6	+	8	1076	c.619G>A	c.(619-621)Gat>Aat	p.D207N	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	207	Asp-rich.					nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GGAAAAAgatgatgatgatga	0.408000													5	4					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545777	234545777	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:234545777C>G	ENST00000344644.5	+	1	678	c.609C>G	c.(607-609)ttC>ttG	p.F203L	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.F203L	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCATGACTTTCAAGGAGAGAG	0.443000													23	130					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49953243	49953243	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:49953243G>A	ENST00000550165.1	-	13	1345	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.S360L|MCRS1_ENST00000357123.4_Missense_Mutation_p.S373L|MCRS1_ENST00000546244.1_Missense_Mutation_p.S169L			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	360					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CACCTCACGCGAGCGCATCAG	0.602000													12	16					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29747711	29747711	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:29747711G>C	ENST00000357586.2	-	8	1228	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	AP1B1_ENST00000356015.2_Missense_Mutation_p.Q348E|AP1B1_ENST00000432560.2_Missense_Mutation_p.Q348E|AP1B1_ENST00000405198.1_Missense_Mutation_p.Q348E|AP1B1_ENST00000402502.1_Missense_Mutation_p.Q348E|AP1B1_ENST00000415447.1_Missense_Mutation_p.Q348E|AP1B1_ENST00000317368.7_Missense_Mutation_p.Q348E	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	348					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATGTTGGCCTGAGAGGCCAGG	0.562000													7	18					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825921	135825921	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:135825921G>C	ENST00000250617.6	-	5	1689	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q8E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q8E|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q8E	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	162	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACTATCAACTGATGACTTCCA	0.398000													15	63					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382415	41382415	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:41382415C>A	ENST00000377801.3	-	2	399	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.E109*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	109	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAATAGAGTTCATTGTCGGGG	0.438000													69	186					1.44546e-19	1.57115e-19	1	1	0
LPAR3	23566	broad.mit.edu	37	1	85331113	85331113	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:85331113G>A	ENST00000440886.1	-	1	729	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	LPAR3_ENST00000370611.3_Missense_Mutation_p.R231W|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	231			R -> Q (in dbSNP:rs35745543).		G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GGTGTCCTCCGGCGGCTGATG	0.502000													3	32					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604274	124604274	+	Missense_Mutation	SNP	C	C	T	rs142309299		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:124604274C>T	ENST00000368417.1	+	2	238	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	NKAIN2_ENST00000368416.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000546092.1_Missense_Mutation_p.R60C|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R45C	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	60						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATAGACCTCGTTACATAAC	0.333000													16	45					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734074	15734074	+	RNA	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:15734074C>G	ENST00000441682.2	+	0	868							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCACAGATGCCGTCATCCAGG	0.562000													22	56					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543119	43543119	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:43543119C>T	ENST00000400424.2	+	17	3186	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Silent_p.I1130I|UMODL1_ENST00000400427.1_Silent_p.I1058I|UMODL1_ENST00000408910.2_Silent_p.I1002I	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 3; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTGTCGCCATCCAGAAGCGCT	0.632000													23	34					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226122	155226122	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:155226122C>T	ENST00000355379.3	-	8	1186	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.R329Q	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	329					post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.R329Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCGGTTCGCACCGCAGG	0.612000													32	59					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105921780	105921780	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:105921780C>T	ENST00000357060.3	-	26	3468	c.3353G>A	c.(3352-3354)cGa>cAa	p.R1118Q	WDR96_ENST00000428666.1_Missense_Mutation_p.R1119Q	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1118										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATCAGAGCTCGGAGTCTTGT	0.488000													121	103					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89837117	89837117	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:89837117C>T	ENST00000310775.7	+	23	2431	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	FANCI_ENST00000300027.8_Missense_Mutation_p.S782F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	782					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAAAAACTCTCTGACATTCTT	0.343000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	108					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91867019	91867019	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:91867019C>T	ENST00000394507.1	-	7	1100	c.317G>A	c.(316-318)aGa>aAa	p.R106K	KRIT1_ENST00000340022.2_Missense_Mutation_p.R106K|KRIT1_ENST00000394503.2_Missense_Mutation_p.R106K|KRIT1_ENST00000412043.2_Missense_Mutation_p.R106K|KRIT1_ENST00000394505.2_Missense_Mutation_p.R106K	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	106					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATGCTTCTCTGCCCATCTT	0.289000													45	27					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775591	38775591	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:38775591C>G	ENST00000308973.4	-	4	2226	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	TLR10_ENST00000506111.1_Missense_Mutation_p.E541Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E541Q|TLR10_ENST00000508334.1_Missense_Mutation_p.E541Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	541	LRRCT.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCATGACCTCTGAATATGTT	0.393000													19	58					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	462333	462333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:462333C>G	ENST00000512944.1	+	9	1753	c.1564C>G	c.(1564-1566)Ccg>Gcg	p.P522A	EXOC3_ENST00000315013.5_Missense_Mutation_p.P522A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	533					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGTGTGTCTCCGAGCCAGCC	0.547000													28	166					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156616607	156616607	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:156616607C>T	ENST00000329117.5	+	3	442	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R36C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGCGCTTTTCGCGTGCGCAT	0.711000													12	18					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15151794	15151794	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:15151794C>G	ENST00000378165.4	-	11	1463	c.1383G>C	c.(1381-1383)aaG>aaC	p.K461N	NMT2_ENST00000378150.1_Missense_Mutation_p.K448N|NMT2_ENST00000540259.1_Missense_Mutation_p.K273N|NMT2_ENST00000535341.1_Missense_Mutation_p.K448N|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	461					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CCAAGAATGTCTTATTTTCCA	0.328000													28	54					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92570844	92570844	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:92570844C>T	ENST00000298047.6	+	16	10257	c.10240C>T	c.(10240-10242)Ctg>Ttg	p.L3414L	FAT3_ENST00000409404.2_Silent_p.L3414L|FAT3_ENST00000525166.1_Silent_p.L3264L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3414	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGATACTCTCTGCTTGTCCA	0.488000										TCGA Ovarian(4;0.039)			5	41					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675752	62675752	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:62675752G>C	ENST00000498273.1	+	4	1601	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	436	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agaggaggaagaggaACAGAC	0.512000													5	29					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87564471	87564471	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:87564471G>C	ENST00000398204.4	+	2	539	c.216G>C	c.(214-216)acG>acC	p.T72T	ADAM22_ENST00000398209.3_Silent_p.T72T|ADAM22_ENST00000439864.1_Silent_p.T72T|ADAM22_ENST00000315984.7_Silent_p.T72T|ADAM22_ENST00000265727.7_Silent_p.T72T|ADAM22_ENST00000398201.4_Silent_p.T72T	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	72					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGCTCGACACGCGGGTGCGGG	0.711000													10	22					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818148	91818148	+	Translation_Start_Site	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:91818148G>C	ENST00000294696.5	-	0	1990				HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370425.3_Missense_Mutation_p.S631C|HFM1_ENST00000370424.3_Missense_Mutation_p.S310C			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGCATTGTAGATTTTATAAC	0.373000													12	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444736	179444736	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:179444736G>A	ENST00000589042.1	-	318	67502	c.67278C>T	c.(67276-67278)ttC>ttT	p.F22426F	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.F13486F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F20785F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F13553F|TTN_ENST00000342992.6_Silent_p.F19858F|TTN_ENST00000460472.2_Silent_p.F13361F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20785	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAACACTCGGAAGAAGTAGG	0.448000													41	71					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119528917	119528917	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:119528917G>A	ENST00000393716.2	+	3	2046	c.207G>A	c.(205-207)atG>atA	p.M69I	NR1I2_ENST00000466380.1_Missense_Mutation_p.M69I|NR1I2_ENST00000337940.4_Missense_Mutation_p.M108I	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	69					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GGAGGGCCATGAAACGCAACG	0.716000													11	27					0	0	1	0	0
MED19	219541	broad.mit.edu	37	11	57472631	57472631	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:57472631G>A	ENST00000337672.2	-	2	309	c.288C>T	c.(286-288)ttC>ttT	p.F96F	MED19_ENST00000431606.2_Silent_p.F96F	NM_153450.1	NP_703151.1	A0JLT2	MED19_HUMAN	mediator complex subunit 19	96					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						TCTTCCCACAGAATTTATTAT	0.458000													19	40					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95552066	95552066	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:95552066G>C	ENST00000325542.5	+	6	935	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	CEP57_ENST00000325486.5_Missense_Mutation_p.E233Q|CEP57_ENST00000538658.1_Missense_Mutation_p.E233Q|CEP57_ENST00000537677.1_Missense_Mutation_p.E206Q|CEP57_ENST00000541150.1_Missense_Mutation_p.E224Q	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	233	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAAGGCAGCTGAGGTAAGTTA	0.343000									Mosaic Variegated Aneuploidy Syndrome				20	16					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815512	106815512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:106815512C>T	ENST00000407775.2	+	8	3452	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q936*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q799*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q936*|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1068					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAGAATCCTCAGCACGAAGA	0.483000													12	21					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531882	6531882	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:6531882G>T	ENST00000361413.3	-	3	631	c.273C>A	c.(271-273)gtC>gtA	p.V91V	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	91						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTTGGGATATGACGGAAAATG	0.388000													36	64					1.00001e-27	1.09276e-27	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768593	140768593	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:140768593C>A	ENST00000519479.1	+	1	1142	c.1142C>A	c.(1141-1143)aCt>aAt	p.T381N	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGTGACTTGTAAATTG	0.418000													16	37					0.00074312	0.000756403	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20644066	20644066	+	RNA	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:20644066C>G	ENST00000428453.1	-	0	3393																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGTAGTCCTCTAACTGGGCC	0.577000													5	5					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43535088	43535088	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:43535088C>T	ENST00000282041.5	-	2	314	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	94					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCAGGGACTCTTCATTGCTT	0.517000													9	52					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368195	111368195	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:111368195C>T	ENST00000375774.3	+	1	867	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	135					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGGCCACTTTCGGGCGCGGAT	0.746000													9	11					0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183604789	183604789	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:183604789C>A	ENST00000359856.6	-	1	72	c.6G>T	c.(4-6)tcG>tcT	p.S2S	ARPC5_ENST00000367534.1_Silent_p.S2S|ARPC5_ENST00000294742.6_Silent_p.S2S	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	2					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						CTGTGTTCTTCGACATCCCAA	0.607000													18	4					1.50039e-11	1.60868e-11	1	1	0
NUP153	9972	broad.mit.edu	37	6	17675821	17675821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:17675821G>C	ENST00000262077.2	-	3	514	c.515C>G	c.(514-516)tCt>tGt	p.S172C	NUP153_ENST00000537253.1_Missense_Mutation_p.S172C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	172					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGAGAGGTAGAATCTTTAAT	0.408000													10	70					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645449	98645449	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:98645449G>A	ENST00000361125.1	-	11	1407	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	SMURF1_ENST00000361368.2_Missense_Mutation_p.S337F|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	363					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GTCCTCCAGAGAGCCCTCACT	0.577000													8	168					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50095162	50095162	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:50095162G>A	ENST00000443081.1	+	9	2218	c.1299G>A	c.(1297-1299)gtG>gtA	p.V433V	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Splice_Site_p.V565V|RBM6_ENST00000442092.1_Splice_Site_p.V43V|RBM6_ENST00000422955.1_Splice_Site_p.V43V			P78332	RBM6_HUMAN	RNA binding motif protein 6	565					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCCACTAGTGACAGAGGCCA	0.408000													54	14					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28234813	28234813	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:28234813C>G	ENST00000354638.3	-	11	1272		c.e11-1		OCA2_ENST00000353809.5_Splice_Site|OCA2_ENST00000382996.2_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGCTGGGTCTCTGCAATCAAA	0.567000									Oculocutaneous Albinism				6	18					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51930823	51930823	+	Missense_Mutation	SNP	G	G	C	rs142678486		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:51930823G>C	ENST00000371117.3	-	12	1106	c.831C>G	c.(829-831)atC>atG	p.I277M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I277M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	277	IPT/TIG 3.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTAATTGTGATGTTTGTTC	0.363000													43	50					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114123190	114123190	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:114123190G>C	ENST00000369615.1	+	3	522	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	MAGI3_ENST00000369611.4_Missense_Mutation_p.E154Q|MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Missense_Mutation_p.E154Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.E154Q	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	154	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGATGGAGAAGTACCAGG	0.358000													12	78					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119232887	119232887	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:119232887G>C	ENST00000316316.6	-	7	1364	c.1078C>G	c.(1078-1080)Cag>Gag	p.Q360E	MCM9_ENST00000316068.3_Missense_Mutation_p.Q360E	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	360	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TTGAGGAACTGAGATTTCCCT	0.373000													11	35					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234307	95234307	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:95234307G>T	ENST00000237853.4	-	8	1511	c.1162C>A	c.(1162-1164)Cct>Act	p.P388T	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	388					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATCTGAGGAGGATGTGAGATG	0.542000													29	37					1.75199e-13	1.89229e-13	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70562804	70562804	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:70562804C>A	ENST00000302516.5	+	3	310	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	33					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTTGTTTCCCGTGGGAAGA	0.478000													23	34					1.85244e-09	1.96152e-09	1	1	0
ZNF486	90649	broad.mit.edu	37	19	20308019	20308019	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:20308019C>T	ENST00000335117.8	+	4	557	c.500C>T	c.(499-501)tCa>tTa	p.S167L	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCAATTTTCAAATTCAAAG	0.308000													24	38					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133689840	133689840	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:133689840G>A	ENST00000253861.4	+	16	2553	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	EXOC4_ENST00000539845.1_Missense_Mutation_p.E741K|EXOC4_ENST00000541309.1_Missense_Mutation_p.E130K|EXOC4_ENST00000545148.1_Missense_Mutation_p.E452K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	842					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTATATCTTCGAAGGTCAGAC	0.463000													62	28					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													6	22					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60967523	60967523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:60967523G>C	ENST00000279101.5	-	8	1021	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	338					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTTGAGGTCTGAGGGCTTCAC	0.562000													11	135					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911862	158911862	+	Silent	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:158911862A>G	ENST00000368140.1	+	5	920	c.675A>G	c.(673-675)gtA>gtG	p.V225V	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Silent_p.V225V|PYHIN1_ENST00000392252.3_Silent_p.V216V|PYHIN1_ENST00000368138.3_Silent_p.V216V	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	225	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAACAAAAGTATTTAAATATG	0.393000													11	71					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469741	120469741	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:120469741T>G	ENST00000283875.5	+	2	435	c.342T>G	c.(340-342)atT>atG	p.I114M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	114					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAAGAAGAATTGAGACCGATG	0.413000													23	49					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29523100	29523100	+	Silent	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:29523100T>C	ENST00000360150.4	-	3	237	c.162A>G	c.(160-162)gtA>gtG	p.V54V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	54					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TATCTTGATATACTGAGAATT	0.279000													25	20					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12985129	12985129	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:12985129C>T	ENST00000251472.4	+	26	4197	c.4158C>T	c.(4156-4158)gtC>gtT	p.V1386V		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1386					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGCGGGACGTCGGCTGCACGC	0.726000													7	22					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847598	130847598	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:130847598G>A	ENST00000245255.3	+	18	2376	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	702	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGTGTACCGCGATGGCGTAGG	0.488000													16	54					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183824031	183824031	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:183824031C>G	ENST00000415389.2	+	8	1507	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	HTR3E_ENST00000425359.2_Silent_p.L332L|HTR3E_ENST00000440596.2_Silent_p.L373L|HTR3E_ENST00000436361.2_Silent_p.L347L|HTR3E_ENST00000335304.2_Silent_p.L362L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	347						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCGGTGGCTCCACTCCCTGC	0.672000													10	21					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734160	50734160	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:50734160G>A	ENST00000442544.2	+	11	2450	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	DCC_ENST00000581580.1_Missense_Mutation_p.D267N|DCC_ENST00000412726.1_Missense_Mutation_p.D460N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	612	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCTACTGATGATATAACAGT	0.348000													15	193					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575857	44575857	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:44575857C>G	ENST00000289547.4	-	4	1907	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	NPC1L1_ENST00000381160.3_Missense_Mutation_p.E618Q|NPC1L1_ENST00000423141.1_Missense_Mutation_p.E618Q|NPC1L1_ENST00000546276.1_Missense_Mutation_p.E618Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	618					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCCCTACCTCAGCCATGAAC	0.632000													17	18					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35926351	35926351	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:35926351C>G	ENST00000540320.1	+	38	6604	c.6070C>G	c.(6070-6072)Ctt>Gtt	p.L2024V	NBEA_ENST00000310336.4_Missense_Mutation_p.L2024V|NBEA_ENST00000400445.3_Missense_Mutation_p.L2024V|NBEA_ENST00000379939.2_Missense_Mutation_p.L2021V			Q8NFP9	NBEA_HUMAN	neurobeachin	2024						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTGTGACCATCTTATCAGTGC	0.363000													10	23					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782333	44782333	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:44782333G>A	ENST00000266534.3	+	8	1550	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.E371K	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	475						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGACTTCAATGAGATCGTCTA	0.458000													6	83					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4852282	4852282	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:4852282G>C	ENST00000221957.4	-	5	556	c.380C>G	c.(379-381)tCt>tGt	p.S127C	PLIN3_ENST00000592528.1_Intron|PLIN3_ENST00000585479.1_Missense_Mutation_p.S127C	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	127					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGACACCTTAGACGACACAAG	0.632000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546852	11546852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:11546852G>A	ENST00000389362.4	-	3	195	c.160C>T	c.(160-162)Cca>Tca	p.P54S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGAGATGGG	0.567000													14	94					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	49963909	49963909	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:49963909C>A	ENST00000281631.5	+	2	254	c.96C>A	c.(94-96)ttC>ttA	p.F32L	PARP8_ENST00000505697.2_Missense_Mutation_p.F32L|PARP8_ENST00000503750.2_Missense_Mutation_p.F32L|PARP8_ENST00000505554.1_Missense_Mutation_p.F11L|PARP8_ENST00000514067.2_Missense_Mutation_p.F32L|PARP8_ENST00000503665.1_Missense_Mutation_p.F32L|PARP8_ENST00000513738.1_Missense_Mutation_p.F32L|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	32						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTCAGATTTCAGATACTCTG	0.468000													42	106					1.23103e-26	1.34234e-26	1	1	0
USP34	9736	broad.mit.edu	37	2	61441807	61441807	+	Silent	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:61441807G>T	ENST00000398571.2	-	68	8146	c.8070C>A	c.(8068-8070)tcC>tcA	p.S2690S	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2690					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGGTATAAGGGACACCAGAA	0.423000													19	38					4.35082e-09	4.59278e-09	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88329490	88329490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:88329490C>G	ENST00000325089.6	+	2	2066	c.1847C>G	c.(1846-1848)tCa>tGa	p.S616*	SLITRK5_ENST00000400028.3_Nonsense_Mutation_p.S375*	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	616						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCTGACTATTCAGATGTAGTA	0.597000													7	205					0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53454999	53454999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:53454999G>T	ENST00000457095.1	+	4	370	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	RIBC1_ENST00000375327.3_Nonsense_Mutation_p.E56*|RIBC1_ENST00000414955.2_Nonsense_Mutation_p.E56*	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	56										lung(2)	2						AAAGCGTCGGGAAGCAGCAGA	0.567000													6	40					1.26484e-09	1.34071e-09	1	1	0
TRH	7200	broad.mit.edu	37	3	129695613	129695613	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:129695613G>C	ENST00000302649.3	+	3	810	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	TRH_ENST00000507066.1_Missense_Mutation_p.E91Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	95					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						ggaggaggaagagggagttga	0.572000													8	59					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32582639	32582639	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:32582639C>G	ENST00000319778.6	-	3	642	c.340G>C	c.(340-342)Gat>Cat	p.D114H	EPC1_ENST00000263062.8_Missense_Mutation_p.D114H|EPC1_ENST00000375110.2_Missense_Mutation_p.D64H	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	114					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AAATCATAATCAGGCTGTTCA	0.378000													9	53					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91013744	91013744	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:91013744C>T	ENST00000220764.2	+	1	112	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	8					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCAGGGTTTTCTTTACTCTGG	0.667000											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	18					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748293	68748293	+	Nonsense_Mutation	SNP	G	G	A	rs140992386		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:68748293G>A	ENST00000309106.3	-	1	162	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTGCATTCGAAAGCCCAGC	0.597000													9	38					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37331819	37331819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:37331819C>A	ENST00000231498.3	-	14	1800	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	NUP155_ENST00000381843.2_Nonsense_Mutation_p.E474*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.E533*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	533					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAATCTCTTCTCCATCTCCT	0.323000													5	198					0.0215528	0.0217223	1	1	0
DLC1	10395	broad.mit.edu	37	8	12950222	12950222	+	Silent	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:12950222T>C	ENST00000276297.4	-	13	4048	c.3639A>G	c.(3637-3639)gcA>gcG	p.A1213A	DLC1_ENST00000520226.1_Silent_p.A702A|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.A776A|DLC1_ENST00000512044.2_Silent_p.A810A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1213	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTTTACGGCTGCTGTGACAT	0.557000													18	9					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124547	76124547	+	Missense_Mutation	SNP	C	C	T	rs142185679		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:76124547C>T	ENST00000393004.2	-	2	363	c.142G>A	c.(142-144)Gat>Aat	p.D48N	FILIP1_ENST00000237172.7_Missense_Mutation_p.D48N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	48								p.D48N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCCATGACATCATCCTCCTTC	0.423000													30	88					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63125804	63125804	+	Missense_Mutation	SNP	G	G	C	rs142793310	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:63125804G>C	ENST00000561311.1	+	54	7334	c.7104G>C	c.(7102-7104)caG>caC	p.Q2368H	RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.Q2368H			Q9Y4G6	TLN2_HUMAN	talin 2	2368	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCAGCCCAGAGGGAGCTGG	0.577000													16	40					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94463667	94463667	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:94463667C>G	ENST00000370225.3	-	48	6566		c.e48-1		ABCA4_ENST00000535881.1_Splice_Site|ABCA4_ENST00000536513.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCTCCAAATCTAGGGGATGC	0.488000													13	32					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29819072	29819072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:29819072G>A	ENST00000219782.6	+	2	1072	c.966G>A	c.(964-966)atG>atA	p.M322I	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Missense_Mutation_p.M322I|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.M299I	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	322					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGACCGCATGAGCTACCACG	0.647000													11	100					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74490116	74490116	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:74490116G>A	ENST00000323940.5	-	3	402	c.157C>T	c.(157-159)Cac>Tac	p.H53Y	STRA6_ENST00000416286.3_Missense_Mutation_p.H53Y|STRA6_ENST00000449139.2_Missense_Mutation_p.H53Y|STRA6_ENST00000423167.2_Missense_Mutation_p.H53Y|STRA6_ENST00000563965.1_Missense_Mutation_p.H92Y|STRA6_ENST00000574278.1_Missense_Mutation_p.H68Y|STRA6_ENST00000395105.4_Missense_Mutation_p.H53Y|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000432245.2_Missense_Mutation_p.H53Y|STRA6_ENST00000535552.1_Missense_Mutation_p.H90Y	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	53					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGGCAGGCGTGGTACAGGCCG	0.647000													3	8					0	0	1	0	0
C2orf76	130355	broad.mit.edu	37	2	120075062	120075062	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:120075062G>A	ENST00000409466.2	-	5	723	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	C2orf76_ENST00000409877.1_Missense_Mutation_p.H68Y|C2orf76_ENST00000334816.7_Missense_Mutation_p.H68Y|C2orf76_ENST00000409523.1_Missense_Mutation_p.H68Y			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	68										large_intestine(1)|lung(3)|pancreas(1)	5						TGTGCTTGATGAATAATCTTT	0.318000													3	5					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955249	113955249	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:113955249C>G	ENST00000482457.2	-	1	1176	c.673G>C	c.(673-675)Ggt>Cgt	p.G225R		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TAGTAAAAACCTTTCCCACAT	0.478000													38	95					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56526287	56526287	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:56526287C>G	ENST00000394048.5	+	9	1331	c.1067C>G	c.(1066-1068)tCa>tGa	p.S356*	ESYT1_ENST00000267113.4_Nonsense_Mutation_p.S356*|ESYT1_ENST00000541590.1_Nonsense_Mutation_p.S356*	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	356	C2 1.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GAGGGCAAGTCAGACCCATAT	0.507000													4	50					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857121	152857121	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:152857121G>C	ENST00000368765.3	+	2	373	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	75					penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGGTTTGGAGACCAAGCC	0.567000													10	108					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210178	3210178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:3210178G>C	ENST00000380059.3	-	14	1964	c.1863C>G	c.(1861-1863)ttC>ttG	p.F621L	SLC4A11_ENST00000539553.2_Missense_Mutation_p.F578L|SLC4A11_ENST00000380056.3_Missense_Mutation_p.F594L|SLC4A11_ENST00000488544.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	594	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ACCTCTTCTTGAATTGGTAGA	0.662000													4	37					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70594423	70594423	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:70594423G>C	ENST00000302516.5	+	16	2273	c.2062G>C	c.(2062-2064)Gat>Cat	p.D688H		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	688					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGATTTGTCTGATACTCGCAC	0.542000													31	32					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12802116	12802116	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:12802116G>C	ENST00000309660.5	-	8	986	c.893C>G	c.(892-894)tCt>tGt	p.S298C	PTPN2_ENST00000591115.1_Missense_Mutation_p.S321C|PTPN2_ENST00000353319.4_Missense_Mutation_p.S298C|PTPN2_ENST00000591497.1_Missense_Mutation_p.S269C|PTPN2_ENST00000327283.3_Missense_Mutation_p.S298C	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	298					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAAGGCAGGAGATAAGTCTTC	0.318000													4	22					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28843819	28843819	+	Silent	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:28843819T>C	ENST00000422425.2	+	48	3512	c.3468T>C	c.(3466-3468)aaT>aaC	p.N1156N	PLB1_ENST00000541605.1_Silent_p.N132N|PLB1_ENST00000327757.5_Silent_p.N1167N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1167	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGACTAAATGTGGCAGCGG	0.557000													35	52					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463473	125463473	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:125463473C>T	ENST00000328599.3	+	1	426	c.305C>T	c.(304-306)tCa>tTa	p.S102L	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	102					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGGGTTGTTCACCTGCCCAA	0.592000													39	58					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33140844	33140844	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:33140844G>A	ENST00000375030.2	+	21	2229	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	C10orf68_ENST00000375025.4_Silent_p.L642L|C10orf68_ENST00000375028.3_Silent_p.L582L			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	578										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCCTTTACTGAATCAACTCC	0.323000													5	150					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902322	1902322	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:1902322C>G	ENST00000358771.4	+	3	870	c.718C>G	c.(718-720)Ctt>Gtt	p.L240V	SIRPA_ENST00000400068.3_Missense_Mutation_p.L240V|SIRPA_ENST00000356025.3_Missense_Mutation_p.L240V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	240	Ig-like C1-type 1.		PL -> SF.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGGGACCCTCTTCGTGGGAC	0.632000													24	41					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593181	102593181	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:102593181T>G	ENST00000236826.3	-	2	424	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	109					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GTTAGTGCGTTCCCACTTGGG	0.473000													4	66					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65751506	65751506	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:65751506G>C	ENST00000304842.5	+	3	1279	c.854G>C	c.(853-855)aGa>aCa	p.R285T	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	285					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGTGGAGAGATCTACAGAC	0.318000													6	45					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561703	55561703	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:55561703C>T	ENST00000436346.1	-	15	3095	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E752K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E752K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E752K|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	752					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCTAAGCGTTCTGTTTTCTTG	0.363000													12	78					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456576	70456576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:70456576C>A	ENST00000377844.4	-	5	1825	c.1066G>T	c.(1066-1068)Gag>Tag	p.E356*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E163*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	356					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGGAGCTCCTCAGCTGGAAGG	0.388000													12	76					2.68362e-12	2.88637e-12	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70503886	70503886	+	Silent	SNP	T	T	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:70503886T>A	ENST00000310961.5	+	22	2698	c.2280T>A	c.(2278-2280)ccT>ccA	p.P760P	LRRC7_ENST00000415775.2_Silent_p.P39P|LRRC7_ENST00000035383.5_Silent_p.P755P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	755						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAGCGTCCTGACCGGCTGC	0.522000													22	110					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183365	35183365	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:35183365G>C	ENST00000381318.3	+	21	2694	c.2406G>C	c.(2404-2406)gaG>gaC	p.E802D	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E797D|ITSN1_ENST00000399355.2_Missense_Mutation_p.E802D|ITSN1_ENST00000381285.4_Missense_Mutation_p.E802D|ITSN1_ENST00000399353.1_Missense_Mutation_p.E760D|ITSN1_ENST00000399352.1_Missense_Mutation_p.E797D|ITSN1_ENST00000399349.1_Missense_Mutation_p.E797D|ITSN1_ENST00000399338.4_Missense_Mutation_p.E797D|ITSN1_ENST00000379960.5_Missense_Mutation_p.E797D|ITSN1_ENST00000399326.3_Missense_Mutation_p.E797D|ITSN1_ENST00000381291.4_Missense_Mutation_p.E802D|ITSN1_ENST00000399367.3_Missense_Mutation_p.E797D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	802	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTATGCAGAGAAAATCCCAG	0.527000													9	80					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55398940	55398940	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:55398940C>G	ENST00000536015.1	-	2	219	c.100G>C	c.(100-102)Gat>Cat	p.D34H	ATP8B1_ENST00000283684.4_Missense_Mutation_p.D34H|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	34					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCTGGTCATCAAGTTCATCT	0.468000													79	20					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921954	150921954	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:150921954C>T	ENST00000271640.5	+	12	1723	c.1533C>T	c.(1531-1533)ctC>ctT	p.L511L	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.L511L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCTGCACTCAGTGAAAATG	0.522000													4	77					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56123323	56123323	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:56123323C>T	ENST00000275603.4	+	4	562	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	CCT6A_ENST00000335503.3_Missense_Mutation_p.H70Y|CCT6A_ENST00000540286.1_Missense_Mutation_p.H84Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	115					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTAGGGCCTTCATCCTAGAAT	0.383000													19	18					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558190	149558190	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:149558190C>G	ENST00000223210.4	+	7	2186	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	647					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						TCCGCTACTTCAAGCAGATGG	0.587000													7	17					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151808855	151808855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:151808855G>A	ENST00000370306.2	+	2	186	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	56						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E56K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGCAAATGAAGCTGTGGT	0.478000													30	116					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825981	43825981	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:43825981C>T	ENST00000372462.1	+	5	877	c.674C>T	c.(673-675)cCt>cTt	p.P225L	CDC20_ENST00000310955.6_Missense_Mutation_p.P225L|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	225					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGGAGCAGCCTGGGGAATAT	0.547000													11	54					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114752	168114752	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:168114752G>A	ENST00000409728.1	+	11	1884	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E566K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E566K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E344K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E599K|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGGCCACCTGAAATGACAAC	0.398000													17	31					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154940182	154940182	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:154940182G>C	ENST00000448116.2	-	7	1168	c.948C>G	c.(946-948)ctC>ctG	p.L316L	SHC1_ENST00000606391.1_Silent_p.L117L|SHC1_ENST00000368445.5_Silent_p.L316L|SHC1_ENST00000368453.4_Silent_p.L206L|SHC1_ENST00000368450.1_Silent_p.L206L|SHC1_ENST00000368449.4_Silent_p.L87L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	316	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGGTTCCTGAGGTATTGTT	0.567000													26	30					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119962903	119962903	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:119962903G>C	ENST00000464295.1	-	2	488	c.43C>G	c.(43-45)Cct>Gct	p.P15A	GPR156_ENST00000315843.3_Missense_Mutation_p.P15A|GPR156_ENST00000461057.1_Missense_Mutation_p.P15A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	15						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCCTGGCCAGGAAAACTGTCA	0.502000											OREG0015730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	31					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928165	6928165	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:6928165G>A	ENST00000312053.4	+	17	2269	c.2232G>A	c.(2230-2232)ctG>ctA	p.L744L	EMR1_ENST00000381404.4_Silent_p.L692L|EMR1_ENST00000381407.5_Silent_p.L603L|EMR1_ENST00000450315.3_Silent_p.L567L|EMR1_ENST00000250572.8_Silent_p.L679L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	744					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCTGCTGGCTGAATACAGAGA	0.493000													9	162					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30734044	30734044	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:30734044C>T	ENST00000262518.4	+	23	4252	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1289	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTACTGGCCTCAGCCTTCCGC	0.652000													39	98					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059831	40059831	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:40059831C>T	ENST00000336649.4	+	22	3600	c.3600C>T	c.(3598-3600)atC>atT	p.I1200I	CACNA1I_ENST00000401624.1_Silent_p.I1194I|CACNA1I_ENST00000402142.3_Silent_p.I1194I|CACNA1I_ENST00000407673.1_Silent_p.I1159I|CACNA1I_ENST00000400164.3_Silent_p.I1159I|CACNA1I_ENST00000404898.1_Silent_p.I1159I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1194					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCCTCAGATCGAGGCCGGCA	0.622000													53	49					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43519175	43519175	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43519175C>G	ENST00000265351.7	-	15	1798	c.1588G>C	c.(1588-1590)Gat>Cat	p.D530H	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	530					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTATTCCATCATTAACAGGA	0.383000													64	69					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265799	3265799	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:3265799C>T	ENST00000576468.1	+	0	418																											ACTTCTTCCTCAGCAACATGT	0.542000													10	28					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298898	75298898	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:75298898C>T	ENST00000304771.3	-	4	2398	c.1648G>A	c.(1648-1650)Gat>Aat	p.D550N	MAP6_ENST00000526740.1_Missense_Mutation_p.D221N|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	550	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GAGCCTTGATCCTTAACTTTT	0.493000													41	77					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52225454	52225454	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:52225454G>A	ENST00000282588.6	+	21	3152		c.e21-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTATTTTATAGGTAACTTTCA	0.254000													9	20					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41557053	41557053	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:41557053G>C	ENST00000396942.1	-	23	2558	c.2475C>G	c.(2473-2475)atC>atG	p.I825M	ANK1_ENST00000379758.2_Missense_Mutation_p.I825M|ANK1_ENST00000347528.4_Missense_Mutation_p.I825M|ANK1_ENST00000289734.7_Missense_Mutation_p.I825M|ANK1_ENST00000265709.8_Missense_Mutation_p.I866M|ANK1_ENST00000352337.4_Missense_Mutation_p.I825M|ANK1_ENST00000396945.1_Missense_Mutation_p.I825M			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	825	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			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)			CCTTGAAGCTGATGAGTTCTT	0.527000													39	132					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2141855	2141855	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:2141855C>G	ENST00000262304.4	-	41	11672	c.11464G>C	c.(11464-11466)Gag>Cag	p.E3822Q	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3821Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3822					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCCCAGCTCCTGCACGTAG	0.706000													3	6					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587403	15587403	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:15587403G>C	ENST00000292609.4	-	2	207	c.78C>G	c.(76-78)ctC>ctG	p.L26L	PGLYRP2_ENST00000340880.4_Silent_p.L26L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	26					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGAGTCCATGAGCAGGGGCA	0.567000													8	17					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70228071	70228071	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:70228071C>T	ENST00000342771.4	+	7	1279	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P320S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	320										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCTCCTTCTCCGGACCCTGA	0.642000													28	16					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62547765	62547765	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:62547765C>G	ENST00000262435.9	-	16	1993	c.1806G>C	c.(1804-1806)caG>caC	p.Q602H		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	602	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAAATCCTTTCTGCAGAGCCA	0.373000													38	58					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20812283	20812283	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:20812283C>G	ENST00000328879.4	-	5	1273	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	KLHL22_ENST00000440659.2_Missense_Mutation_p.D230H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	373					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCCGTGGGTCATACCTGTGC	0.597000													9	20					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505275	24505275	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:24505275G>C	ENST00000264463.4	-	8	1846	c.1339C>G	c.(1339-1341)Ctt>Gtt	p.L447V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	447	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCACGGTCAAGAGGTTTTGAT	0.353000										HNSCC(23;0.051)			5	175					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548779	52548779	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:52548779G>C	ENST00000242839.4	-	2	733	c.577C>G	c.(577-579)Cag>Gag	p.Q193E	ATP7B_ENST00000400370.3_Missense_Mutation_p.Q193E|ATP7B_ENST00000344297.5_Missense_Mutation_p.Q193E|ATP7B_ENST00000418097.2_Missense_Mutation_p.Q193E|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Missense_Mutation_p.Q161E|ATP7B_ENST00000448424.2_Missense_Mutation_p.Q193E|ATP7B_ENST00000400366.3_Missense_Mutation_p.Q193E	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	193	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCTTCGGGCTGAATGAGATAA	0.493000									Wilson disease				6	64					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8399278	8399278	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:8399278C>T	ENST00000330915.3	-	4	1418	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	KANK3_ENST00000593649.1_Silent_p.K451K	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	451										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGCCGTCTCTCTTCTTCATGA	0.627000													8	24					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615266	121615266	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:121615266C>G	ENST00000489711.1	+	2	507	c.119C>G	c.(118-120)tCc>tGc	p.S40C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S40C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	40					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ATCTGTGGCTCCAACTATCCA	0.378000													36	79					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63449203	63449203	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:63449203G>C	ENST00000377819.5	+	1	249	c.95G>C	c.(94-96)gGa>gCa	p.G32A	RTN3_ENST00000354497.4_Missense_Mutation_p.G32A|RTN3_ENST00000341307.2_Missense_Mutation_p.G32A|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000537981.1_Missense_Mutation_p.G32A|RTN3_ENST00000339997.4_Missense_Mutation_p.G32A|RTN3_ENST00000356000.3_Missense_Mutation_p.G32A|RTN3_ENST00000540798.1_Missense_Mutation_p.G32A	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	32					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GGGAGCCCAGGAGCCTGCCCC	0.746000													3	24					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776964	38776964	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:38776964C>T	ENST00000308973.4	-	4	853	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TLR10_ENST00000506111.1_Missense_Mutation_p.R83K|TLR10_ENST00000361424.2_Missense_Mutation_p.R83K|TLR10_ENST00000508334.1_Missense_Mutation_p.R83K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	83					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTGTTGAATTCTGTTATGGCA	0.348000													26	22					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62153648	62153648	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:62153648G>C	ENST00000474889.1	+	8	1221	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	PTPRG_ENST00000295874.10_Missense_Mutation_p.E282Q	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	282	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGTTCAGCTTGAGGCTTTTTA	0.453000													17	31					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100529	133100529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:133100529C>A	ENST00000275227.4	-	7	769	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Nonsense_Mutation_p.E99*	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	225					transmembrane transport	integral to membrane											AATGAGTGTTCACCTGGATCA	0.368000													16	31					1.99824e-07	2.08999e-07	1	1	0
SH3GL2	6456	broad.mit.edu	37	9	17791268	17791268	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:17791268C>G	ENST00000380607.4	+	7	784	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	SH3GL2_ENST00000537391.1_Missense_Mutation_p.Q175E	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	222	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGTGCAAGCTCAGCTGGAGTA	0.468000													42	11					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982331	57982331	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:57982331C>G	ENST00000309433.6	+	1	115	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCATCAAAACCTCCTCTTTGT	0.448000													15	143					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25543404	25543404	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:25543404C>T	ENST00000269141.3	-	15	2854	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.E780K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	811					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGGTCTTTCATCCATTCGT	0.542000													20	52					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836526	68836526	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:68836526C>G	ENST00000374552.4	+	1	616	c.374C>G	c.(373-375)tCt>tGt	p.S125C	EDA_ENST00000374553.2_Missense_Mutation_p.S125C|EDA_ENST00000525810.1_Missense_Mutation_p.S125C|EDA_ENST00000338901.3_Missense_Mutation_p.S125C|EDA_ENST00000527388.1_Missense_Mutation_p.S125C|EDA_ENST00000524573.1_Missense_Mutation_p.S125C|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	125					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCACTCCACTCTGACTCCCAG	0.701000													9	12					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366354	100366354	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:100366354C>G	ENST00000294724.4	+	26	4003	c.3525C>G	c.(3523-3525)ctC>ctG	p.L1175L	AGL_ENST00000361302.3_Silent_p.L1159L|AGL_ENST00000370163.3_Silent_p.L1175L|AGL_ENST00000370165.3_Silent_p.L1175L|AGL_ENST00000370161.2_Silent_p.L1159L|AGL_ENST00000361522.4_Silent_p.L1158L|AGL_ENST00000361915.3_Silent_p.L1175L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1175					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAGACATTCTCAAGTGCCCAG	0.398000													26	120					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677401	37677401	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:37677401C>G	ENST00000532828.2	-	5	1289	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	ZNF585B_ENST00000531805.1_Missense_Mutation_p.K291N|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTTTGAATCTTCTCATGTG	0.403000													22	256					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65309759	65309759	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:65309759C>G	ENST00000377990.2	+	6	2397	c.2194C>G	c.(2194-2196)Ctg>Gtg	p.L732V	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.L595V|CEP68_ENST00000546106.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	732					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTGGCCTCTCTGGACATGCT	0.532000													53	65					0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45372492	45372492	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:45372492G>C	ENST00000325192.3	+	3	882	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Intron	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	203										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ACTGTGTGAAGAGCATGGGTG	0.343000													31	101					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Missense_Mutation	SNP	C	C	G	rs141139097		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:168352586C>G	ENST00000366806.2	+	30	4673	c.4531C>G	c.(4531-4533)Ctg>Gtg	p.L1511V	MLLT4_ENST00000344191.4_Missense_Mutation_p.L1511V|MLLT4_ENST00000392112.1_Missense_Mutation_p.L1494V|MLLT4_ENST00000400822.3_Missense_Mutation_p.L1510V|MLLT4_ENST00000351017.4_Missense_Mutation_p.L1518V|MLLT4_ENST00000392108.3_Missense_Mutation_p.L1511V|MLLT4_ENST00000447894.2_Missense_Mutation_p.L1511V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1511					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.L1495L(1)|p.L1511L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGGGGACAGTCTGTCCCCCGA	0.602000			T	MLL	AL								9	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8969284	8969284	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:8969284C>G	ENST00000397910.4	-	79	43263	c.43060G>C	c.(43060-43062)Gag>Cag	p.E14354Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E995Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14450	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCGCATCCTCAATATTCCTT	0.478000													26	62					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214169991	214169991	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:214169991G>C	ENST00000366958.4	+	2	721	c.113G>C	c.(112-114)aGa>aCa	p.R38T	PROX1_ENST00000498508.2_Missense_Mutation_p.R38T|PROX1_ENST00000435016.1_Missense_Mutation_p.R38T|PROX1_ENST00000261454.4_Missense_Mutation_p.R38T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	38					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCTAAGGCAAGAGCAACGTTT	0.483000													15	31					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417734	121417734	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:121417734C>G	ENST00000393667.3	-	13	1746	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E541Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	541					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCACTTTCCTCAGCAGAAGAG	0.294000													33	126					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15748072	15748072	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:15748072C>T	ENST00000285667.3	-	4	716	c.649G>A	c.(649-651)Gac>Aac	p.D217N	HSPA13_ENST00000544452.1_Missense_Mutation_p.D9N	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	217						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGGAAGACGTCAGCCTTGTGG	0.448000													7	85					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13010171	13010171	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:13010171C>G	ENST00000293695.7	-	6	659	c.641G>C	c.(640-642)aGa>aCa	p.R214T	GCDH_ENST00000222214.5_Intron|GCDH_ENST00000457854.1_Intron|GCDH_ENST00000422947.2_Intron|GCDH_ENST00000591470.1_Intron	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	214					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TTCACCATCTCTGTTGGTCTG	0.468000													3	62					0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138428341	138428341	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:138428341G>C	ENST00000421351.3	-	1	307	c.137C>G	c.(136-138)tCg>tGg	p.S46W		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	46					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CCACCACAGCGAGGACGTCTG	0.687000													15	36					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226180269	226180269	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:226180269C>T	ENST00000272091.7	-	4	369		c.e4-1			NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TTCAGCCATTCTGGGGATGAG	0.433000													15	64					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018429	58018429	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:58018429G>T	ENST00000282292.4	+	4	1106	c.966G>T	c.(964-966)caG>caT	p.Q322H	ZNF773_ENST00000598770.1_Missense_Mutation_p.Q321H|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGAAACATCAGAGAGTTCACA	0.428000													85	101					9.72016e-57	1.06444e-56	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172537598	172537598	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:172537598G>C	ENST00000540014.1	+	7	1816	c.1497G>C	c.(1495-1497)caG>caC	p.Q499H	CREBRF_ENST00000296953.2_Missense_Mutation_p.Q497H			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	497							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AACTCCTCCAGATAGGCAATG	0.403000													11	25					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346709	346709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:346709G>A	ENST00000400256.3	-	5	1120	c.913C>T	c.(913-915)Caa>Taa	p.Q305*		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	305					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCGTTGGCTTGAGAGATAGTG	0.493000													5	59					0	0	1	0	0
NR2F6	2063	broad.mit.edu	37	19	17346315	17346315	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:17346315G>T	ENST00000291442.3	-	3	1652	c.933C>A	c.(931-933)ttC>ttA	p.F311L		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	311	Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CACCGGGCGTGAAGAGCGCGA	0.697000													5	3					5.9392e-07	6.20559e-07	1	1	0
MUM1L1	139221	broad.mit.edu	37	X	105450252	105450252	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:105450252C>T	ENST00000337685.2	+	5	1612	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MUM1L1_ENST00000357175.2_Missense_Mutation_p.S276L|MUM1L1_ENST00000372552.1_Missense_Mutation_p.S276L	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	276										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCTTTCTCAGAGAATATT	0.488000													4	19					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63510096	63510096	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:63510096G>C	ENST00000389100.4	+	4	1015	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.E315Q	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	315	Interaction with ZIC2 (By similarity).					integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GTGTGGTCTAGAAGCTGCTTC	0.493000													13	10					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50148320	50148320	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:50148320G>A	ENST00000360565.3	+	2	161	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	13					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAAGACAGAGGAGTCGGGGGA	0.612000													3	31					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88983466	88983466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:88983466G>T	ENST00000556564.1	-	3	604	c.320C>A	c.(319-321)tCa>tAa	p.S107*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.S107*|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	107	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGAGAAACTGAAGGCACATA	0.413000													10	21					5.50884e-06	5.73255e-06	1	1	0
PSKH1	5681	broad.mit.edu	37	16	67961249	67961249	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67961249C>T	ENST00000291041.5	+	3	1149	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	327	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TGTGTCCAACCTGGCCAAGGA	0.597000													5	88					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121689224	121689224	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:121689224G>A	ENST00000369075.3	+	14	2491	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.E596K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	807	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TAGGATAGATGAGAATTACAG	0.333000													29	37					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340289	116340289	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:116340289G>C	ENST00000397752.3	+	2	1351	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T	MET_ENST00000318493.6_Missense_Mutation_p.R384T|MET_ENST00000436117.2_Missense_Mutation_p.R384T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	384	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACAATGTGAGATGTCTCCAG	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				9	123					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623982	99623982	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:99623982C>G	ENST00000370602.1	+	4	414	c.349C>G	c.(349-351)Cga>Gga	p.R117G		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	117						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CTTTGCACCTCGAGGCCTCCT	0.522000													3	21					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47273692	47273692	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:47273692G>C	ENST00000396220.1	-	18	2031	c.2009C>G	c.(2008-2010)tCc>tGc	p.S670C	PREX1_ENST00000371941.3_Missense_Mutation_p.S670C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	670	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCATTGATGGAGTAGATCTT	0.617000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	18					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991279	144991279	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:144991279G>A	ENST00000322810.4	-	32	13290	c.13121C>T	c.(13120-13122)tCg>tTg	p.S4374L	PLEC_ENST00000527096.1_Missense_Mutation_p.S4260L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4241L|PLEC_ENST00000354958.2_Missense_Mutation_p.S4215L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4237L|PLEC_ENST00000356346.3_Missense_Mutation_p.S4223L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4264L|PLEC_ENST00000398774.2_Missense_Mutation_p.S4205L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4237L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4374	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGTTGCCCGAGAGCATGTC	0.662000													33	71					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5633095	5633095	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:5633095C>G	ENST00000382361.3	+	1	642	c.528C>G	c.(526-528)ctC>ctG	p.L176L	FSCN1_ENST00000340250.6_Silent_p.L155L	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	176					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCGACTCGCTCATCACCCTCG	0.726000													16	15					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912050	155912050	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:155912050G>A	ENST00000368318.3	+	1	571	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	184						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTGGAGGGTGAGGTGTGTGG	0.657000													34	48					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43662529	43662529	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:43662529C>T	ENST00000374466.3	+	6	1572	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	413					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTGCCACCACCTGTGGAGCA	0.383000													5	16					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538994	56538994	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:56538994C>T	ENST00000390649.3	+	7	1395	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	465	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGAGCTGCTCGACCAGTGCC	0.612000													10	44					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872842	66872842	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:66872842A>C	ENST00000269080.2	-	32	4219	c.4082T>G	c.(4081-4083)tTa>tGa	p.L1361*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.L1401*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.L1401*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1361	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CGCATCCACTAACCTGAAGGA	0.493000													10	35					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65633916	65633916	+	Splice_Site	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:65633916A>G	ENST00000308330.2	+	8	2050	c.2024A>G	c.(2023-2025)gAt>gGt	p.D675G		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	675					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTATTTTTAGATGTTTTACGA	0.313000													26	46					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86808950	86808950	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:86808950G>C	ENST00000394703.5	+	10	1172	c.609G>C	c.(607-609)ctG>ctC	p.L203L	DMTF1_ENST00000432937.2_Silent_p.L115L|DMTF1_ENST00000331242.7_Silent_p.L203L|DMTF1_ENST00000394702.3_Silent_p.L203L|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Silent_p.L203L|DMTF1_ENST00000411766.2_Silent_p.L162L	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	203	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CATGGGGTCTGAACCGGCCTT	0.398000													7	92					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111962924	111962924	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:111962924C>G	ENST00000305815.5	-	11	1450		c.e11-1		SLC9C1_ENST00000487372.1_Splice_Site	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1						cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GAAATAATATCTAGAATTGAA	0.274000													10	43					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104330830	104330830	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:104330830C>G	ENST00000358755.4	+	3	507	c.190C>G	c.(190-192)Ctc>Gtc	p.L64V	FZD6_ENST00000522566.1_Missense_Mutation_p.L64V|FZD6_ENST00000523739.1_Missense_Mutation_p.L32V|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	64	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTTCTTCCTCTCGCAAATCT	0.303000													21	65					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21861391	21861391	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:21861391G>C	ENST00000399982.2	-	32	6406	c.6342C>G	c.(6340-6342)ctC>ctG	p.L2114L	CHD8_ENST00000430710.3_Silent_p.L1835L|CHD8_ENST00000557364.1_Silent_p.L2114L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2114					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTCATCATAGAGCTTTGAGC	0.443000													7	27					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186904	140186904	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:140186904C>A	ENST00000530339.1	+	1	132	c.132C>A	c.(130-132)ttC>ttA	p.F44L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.F44L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.F44L|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.677000													20	43					8.10497e-08	8.49448e-08	1	1	0
TCHH	7062	broad.mit.edu	37	1	152084813	152084813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:152084813C>G	ENST00000368804.1	-	2	879	c.880G>C	c.(880-882)Gag>Cag	p.E294Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	294					keratinization	cytoskeleton	calcium ion binding	p.E293fs*6(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctgctCTTCCTCCTGG	0.647000													6	69					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694611	109694611	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:109694611T>C	ENST00000465301.2	+	3	1012	c.766T>C	c.(766-768)Tct>Cct	p.S256P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S256P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	256										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGAGATATCTTCGCTGCT	0.493000													24	70					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44581417	44581417	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:44581417G>A	ENST00000299957.6	+	1	489	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CASC4_ENST00000360824.3_Missense_Mutation_p.E64K|CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.E64K	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	64						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CGGGCGGCTGGAAAAGCGCAA	0.652000													5	19					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41740660	41740660	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:41740660G>A	ENST00000373018.3	-	5	542	c.291C>T	c.(289-291)atC>atT	p.I97I	FRS3_ENST00000259748.2_Silent_p.I97I	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	97	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGGTTGAAGATTTCCTCAG	0.502000													51	48					0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020609	112020609	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:112020609C>T	ENST00000343534.5	+	6	582	c.332C>T	c.(331-333)tCa>tTa	p.S111L	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.S86L	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	111						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTGCAGCTTTCATCCATCCCA	0.453000													17	56					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187658	123187658	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:123187658G>C	ENST00000328880.5	-	1	232	c.173C>G	c.(172-174)tCc>tGc	p.S58C	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	58					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GGATTTCCAGGACTTGAGGTG	0.527000													15	25					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926831	95926831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:95926831G>T	ENST00000258499.3	-	2	1490	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	USP44_ENST00000393091.2_Nonsense_Mutation_p.S401*|USP44_ENST00000537435.2_Nonsense_Mutation_p.S401*|USP44_ENST00000552440.1_Nonsense_Mutation_p.S401*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	401					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGCAAATGGTGAGACCAACGC	0.433000													4	73					2.56e-06	2.66938e-06	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27401833	27401833	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:27401833C>T	ENST00000527372.1	-	42	6300	c.6120G>A	c.(6118-6120)ctG>ctA	p.L2040L	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Silent_p.L1988L|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Silent_p.L2025L|TIAF1_ENST00000359450.6_5'UTR|MYO18A_ENST00000354329.4_Silent_p.L2040L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	2040					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGCTGTCACTCAGATAACTGT	0.617000													51	79					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815426	30815426	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:30815426C>G	ENST00000313401.3	+	2	1477	c.788C>G	c.(787-789)tCt>tGt	p.S263C		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	263					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGTTGCCTCTCTGTCATCAAC	0.552000													12	82					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31236798	31236798	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:31236798G>C	ENST00000251758.5	+	3	447	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	DDX11_ENST00000228264.6_Missense_Mutation_p.E40Q|DDX11_ENST00000542838.1_Missense_Mutation_p.E66Q|DDX11_ENST00000350437.4_Missense_Mutation_p.E66Q|DDX11_ENST00000407793.2_Missense_Mutation_p.E66Q|DDX11_ENST00000545668.1_Missense_Mutation_p.E66Q			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	66	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCGTGACTTTGAACAGAAGAA	0.468000										Multiple Myeloma(12;0.14)			46	39					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60501622	60501622	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:60501622G>A	ENST00000311506.5	+	2	189	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	51							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CGGCGGCGGAGAGAAAAGTCC	0.582000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466371	164466371	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:164466371C>A	ENST00000333129.3	-	3	2285	c.1971G>T	c.(1969-1971)gcG>gcT	p.A657A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	657						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGGTGCCTCGCTGTGCTGT	0.458000													13	44					0.105934	0.106453	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979693	58979693	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:58979693T>A	ENST00000361050.3	-	1	731	c.646A>T	c.(646-648)Att>Ttt	p.I216F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	216	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCTCCTGAATAAGAGCAGCC	0.582000													10	51					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332664	130332664	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:130332664A>C	ENST00000299164.2	+	4	1531	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	511	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACACAACCTCAACAAGCACAG	0.652000													31	68					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38462544	38462544	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:38462544C>G	ENST00000399017.2	+	6	3185	c.438C>G	c.(436-438)ttC>ttG	p.F146L	TTC3_ENST00000399010.1_Missense_Mutation_p.F146L|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.F146L|TTC3_ENST00000355666.1_Missense_Mutation_p.F146L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	146					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGATTCATTCCTTATTGGAG	0.338000													5	65					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074742	237074742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:237074742C>A	ENST00000306318.4	-	2	1259	c.862G>T	c.(862-864)Gag>Tag	p.E288*	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		ACCTGCACCTCGCTGAGTTTG	0.592000													19	50					7.45023e-12	7.99631e-12	1	1	0
FNDC3B	64778	broad.mit.edu	37	3	172064204	172064204	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:172064204G>A	ENST00000336824.4	+	20	2437	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D780N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D780N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	780	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTGTACACCTGATGGATGTGT	0.413000													36	48					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36903569	36903569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:36903569G>C	ENST00000451493.1	-	4	1311	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	SPG20_ENST00000494062.2_Missense_Mutation_p.S365C|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.S365C|SPG20_ENST00000438666.2_Missense_Mutation_p.S365C	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	365					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATCAGTGCCAGAGGCTTCTTT	0.408000													39	113					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178592834	178592834	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:178592834C>G	ENST00000286063.6	-	11	2172	c.1855G>C	c.(1855-1857)Gac>Cac	p.D619H	PDE11A_ENST00000389683.3_Missense_Mutation_p.D175H|PDE11A_ENST00000449286.2_Missense_Mutation_p.D261H|PDE11A_ENST00000358450.4_Missense_Mutation_p.D369H|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.D261H	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCATCAACGTCGAGAGAAAAG	0.438000									Primary Pigmented Nodular Adrenocortical Disease, Familial				22	18					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128347887	128347887	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:128347887C>G	ENST00000265960.3	-	5	950	c.618G>C	c.(616-618)ctG>ctC	p.L206L	MAPKAP1_ENST00000394060.3_Silent_p.L206L|MAPKAP1_ENST00000373503.3_Silent_p.L14L|MAPKAP1_ENST00000350766.3_Silent_p.L206L|MAPKAP1_ENST00000373511.2_Silent_p.L206L|MAPKAP1_ENST00000373497.5_Silent_p.L14L|MAPKAP1_ENST00000373498.1_Silent_p.L206L|MAPKAP1_ENST00000394063.1_Silent_p.L14L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	206					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGAGCCCGATCAGGTCCTGCA	0.542000													7	42					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170440	214170440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:214170440G>A	ENST00000366958.4	+	2	1170	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	PROX1_ENST00000498508.2_Missense_Mutation_p.E188K|PROX1_ENST00000435016.1_Missense_Mutation_p.E188K|PROX1_ENST00000261454.4_Missense_Mutation_p.E188K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	188					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGGGGCAATGAAAATGAAAG	0.507000													14	31					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652039	28652039	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:28652039C>T	ENST00000328886.4	-	4	507	c.435G>A	c.(433-435)gtG>gtA	p.V145V	TMIGD1_ENST00000538566.2_Silent_p.V145V	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	145	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GGTTGGCTTTCACATTGCAAA	0.428000													21	164					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812457	2812457	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:2812457G>C	ENST00000301740.8	+	11	2477	c.1928G>C	c.(1927-1929)aGa>aCa	p.R643T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	643	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGCCAGGAGAAGTGGCAGG	0.622000													13	60					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776586	137776586	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:137776586G>T	ENST00000242375.3	+	3	376	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D112Y|AKR1D1_ENST00000432161.1_Missense_Mutation_p.D112Y	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	112					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.D112N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCCAGCTAGATTATGTGGA	0.488000													25	44					1.1804e-14	1.27762e-14	1	1	0
TTC18	118491	broad.mit.edu	37	10	75038029	75038029	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:75038029G>A	ENST00000310715.3	-	21	2636	c.2516C>T	c.(2515-2517)tCa>tTa	p.S839L	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.S308L|TTC18_ENST00000401621.2_Missense_Mutation_p.S839L|TTC18_ENST00000394865.1_Missense_Mutation_p.S839L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	839							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGGTTCTTGTGAATCAGACTG	0.338000													6	31					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222181	55222181	+	RNA	SNP	C	C	G	rs115666951	by1000genomes	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:55222181C>G	ENST00000413439.1	+	0	1708																											CCCTGGAGCTCGTGGTCTCAG	0.627000													14	51					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61908762	61908762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:61908762G>T	ENST00000310144.6	+	9	1254	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	PSMC5_ENST00000375812.4_Nonsense_Mutation_p.E308*|PSMC5_ENST00000580864.1_Nonsense_Mutation_p.E308*|PSMC5_ENST00000581882.1_Nonsense_Mutation_p.E308*	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	316					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CAGAAAAATTGAATTCCCACC	0.532000													29	197					1.39806e-14	1.51161e-14	1	1	0
METTL4	64863	broad.mit.edu	37	18	2567193	2567193	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:2567193G>A	ENST00000319888.6	-	2	821	c.23C>T	c.(22-24)tCa>tTa	p.S8L	METTL4_ENST00000574538.1_Missense_Mutation_p.S8L			Q8N3J2	METL4_HUMAN	methyltransferase like 4	8					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCACCCAGCTGACAACTGGTG	0.388000													9	56					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487828	24487828	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:24487828G>A	ENST00000264463.4	-	12	2818	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTATTAAACCGAGGGCCCCAT	0.408000										HNSCC(23;0.051)			56	330					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571197	167571197	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:167571197G>A	ENST00000366834.1	-	1	620	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	41						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCCTGACCCGGAACAGGAAGG	0.662000													5	17					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6750567	6750567	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:6750567C>T	ENST00000230859.6	+	10	1190	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	354	Ser-rich.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGCTCCTGTCTTCAGGCTCC	0.582000													6	116					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177540	7177540	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:7177540C>A	ENST00000406697.1	+	15	2280	c.1652C>A	c.(1651-1653)cCa>cAa	p.P551Q	C1S_ENST00000328916.3_Missense_Mutation_p.P551Q|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.P551Q|C1S_ENST00000402681.3_Missense_Mutation_p.P384Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	551	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATCTGCCTACCAGGCACCTCT	0.552000													3	23					6.4e-05	6.61958e-05	1	1	0
WDR91	29062	broad.mit.edu	37	7	134881081	134881081	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:134881081C>T	ENST00000354475.4	-	8	1090	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Silent_p.E353E|WDR91_ENST00000423565.1_Silent_p.E318E	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	353										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGGTTTCTTCTCTGCACACT	0.642000													5	35					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157673	26157673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:26157673G>T	ENST00000325250.1	+	2	758	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	191	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AACCAGTGATGAAGAAAAAAT	0.458000													16	33					6.31663e-08	6.62696e-08	1	1	0
NPY1R	4886	broad.mit.edu	37	4	164247524	164247524	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:164247524C>G	ENST00000296533.2	-	2	714	c.183G>C	c.(181-183)ttG>ttC	p.L61F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	61					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGATTATGATCAAGGCCAGGT	0.413000													17	37					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810854	45810854	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:45810854G>T	ENST00000397928.1	+	10	1831	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TRPM2_ENST00000300481.9_Missense_Mutation_p.W462C|TRPM2_ENST00000300482.5_Missense_Mutation_p.W462C|TRPM2_ENST00000397932.2_Missense_Mutation_p.W462C|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	462						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGTGGCATGGAATCGCGTGG	0.577000													5	118					3.59834e-05	3.72932e-05	1	1	0
ADCY9	115	broad.mit.edu	37	16	4027575	4027575	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:4027575G>A	ENST00000294016.3	-	9	3274	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	912					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAGCTGGCAGAAGTTACAGT	0.667000													5	8					0	0	1	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322114	42322114	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:42322114C>T	ENST00000291232.3	-	2	402	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	120						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						CCGTCCTTGTCTCCGTCGGGG	0.711000													9	18					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945867	66945867	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:66945867G>A	ENST00000299752.4	-	13	1918	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	CDH16_ENST00000565796.1_Silent_p.I575I|CDH16_ENST00000570262.1_Silent_p.I495I|CDH16_ENST00000394055.3_Silent_p.I575I|CDH16_ENST00000568632.1_Silent_p.I478I	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGGGGCACTGATGGGGACAC	0.637000													23	38					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17341282	17341282	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:17341282G>A	ENST00000262545.2	+	4	817	c.502G>A	c.(502-504)Gat>Aat	p.D168N	PCSK2_ENST00000377899.1_Missense_Mutation_p.D149N|PCSK2_ENST00000536609.1_Missense_Mutation_p.D133N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	168	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATTATGGATGATGGTGAGTA	0.448000													12	7					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310263	24310263	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:24310263G>C	ENST00000357002.4	+	4	1576	c.1461G>C	c.(1459-1461)gaG>gaC	p.E487D	ZNF254_ENST00000342944.6_Missense_Mutation_p.E402D	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	487					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACACTGGAGAGAAACCCTACA	0.393000													7	103					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148449	69148449	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:69148449C>T	ENST00000306560.1	+	4	1098	c.942C>T	c.(940-942)ttC>ttT	p.F314F	HAS3_ENST00000569188.1_Silent_p.F314F|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	314					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGTGCAGCTTCGGGGATGACC	0.577000													6	33					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98222006	98222006	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:98222006G>C	ENST00000430669.2	-	17	3150	c.2565C>G	c.(2563-2565)atC>atG	p.I855M	PTCH1_ENST00000418258.1_Missense_Mutation_p.I770M|PTCH1_ENST00000437951.1_Missense_Mutation_p.I855M|PTCH1_ENST00000429896.2_Missense_Mutation_p.I770M|PTCH1_ENST00000421141.1_Missense_Mutation_p.I770M|PTCH1_ENST00000375274.2_Missense_Mutation_p.I920M|PTCH1_ENST00000331920.6_Missense_Mutation_p.I921M			Q13635	PTC1_HUMAN	patched 1	921					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGTCAGGTAGATGTAGAAAG	0.547000													11	58					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19938219	19938219	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:19938219T>G	ENST00000295824.9	-	9	1846	c.1685A>C	c.(1684-1686)aAg>aCg	p.K562T	EFHB_ENST00000344838.4_Missense_Mutation_p.K432T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	562	EF-hand 1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGTGTCAAACTTTTGGTAATT	0.468000													3	51					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36111305	36111305	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:36111305C>T	ENST00000296603.4	-	14	2158	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	566						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGTCATATCATCATCTCCC	0.308000													6	237					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193335031	193335031	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:193335031G>A	ENST00000361510.2	+	4	747	c.513G>A	c.(511-513)aaG>aaA	p.K171K	OPA1_ENST00000361715.2_Intron|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000392438.3_Silent_p.K171K|OPA1_ENST00000361150.2_Intron|OPA1_ENST00000361828.2_Silent_p.K171K|OPA1_ENST00000361908.3_Silent_p.K171K	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	171					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACTTTGACAAGATTGTTGAAA	0.328000													17	45					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149262465	149262465	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:149262465G>A	ENST00000367463.4	+	3	445	c.342G>A	c.(340-342)ggG>ggA	p.G114G		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	114					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GCAAGTGTGGGAGCCGTACTG	0.438000													13	101					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687104	16687104	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:16687104C>G	ENST00000263390.3	-	3	1799	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	513					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCAGGTACTCAGACATGAAG	0.647000													14	32					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013008	57013008	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:57013008G>C	ENST00000370706.4	+	10	2369	c.2125G>C	c.(2125-2127)Gat>Cat	p.D709H	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D709H|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D709H|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAAAACCGAAGATGATTTTCC	0.358000													24	16					0	0	1	0	0
DEDD	9191	broad.mit.edu	37	1	161094084	161094084	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:161094084C>G	ENST00000392188.1	-	3	403	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	DEDD_ENST00000368005.1_Missense_Mutation_p.E57Q|DEDD_ENST00000458050.2_Missense_Mutation_p.E57Q|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.E57Q|DEDD_ENST00000490843.2_Missense_Mutation_p.E57Q|DEDD_ENST00000545495.1_Missense_Mutation_p.E57Q			O75618	DEDD_HUMAN	death effector domain containing	57	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTCCACGCTCGTGGTCATCA	0.537000													18	14					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38373935	38373935	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:38373935G>A	ENST00000358138.1	-	2	435	c.411C>T	c.(409-411)atC>atT	p.I137I	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	137										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						ACCTGAATGTGATAGAAATGG	0.413000													43	142					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151680103	151680103	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:151680103C>G	ENST00000392800.2	+	4	655	c.401C>G	c.(400-402)cCg>cGg	p.P134R	GALNTL5_ENST00000431418.2_Missense_Mutation_p.P134R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	134	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCCCGCCTCCCGACTGCCAGC	0.443000													20	103					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862910	135862910	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:135862910C>G	ENST00000250617.6	-	1	1337	c.132G>C	c.(130-132)ctG>ctC	p.L44L		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	44	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTCTGTTGATCAGTTTGCACA	0.428000													39	157					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232961	31232961	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:31232961G>A	ENST00000255304.4	+	9	3089	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	916					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGAACAGTTCGAAGTGAAAAT	0.398000													18	58					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200265	67200265	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:67200265C>G	ENST00000312629.5	+	7	618	c.573C>G	c.(571-573)atC>atG	p.I191M	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	191	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGCATCATCTACCGGGACC	0.627000													7	97					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121789986	121789986	+	Missense_Mutation	SNP	C	C	T	rs147306166		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:121789986C>T	ENST00000261819.3	-	1	279	c.158G>A	c.(157-159)aGc>aAc	p.S53N	ANAPC5_ENST00000541887.1_Missense_Mutation_p.S53N	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCATGAGGCTGACGGCGCC	0.637000													22	14					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44376892	44376892	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:44376892C>T	ENST00000587539.1	-	3	1473	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E490K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TAGGGTTTTTCACCAGTATGA	0.368000													8	20					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87022134	87022134	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:87022134C>G	ENST00000331536.3	+	16	1778	c.1593C>G	c.(1591-1593)tcC>tcG	p.S531S	CROT_ENST00000442291.1_Silent_p.S531S|CROT_ENST00000419147.2_Silent_p.S559S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	531					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CACTTTTTTCCAAAAGGTAAT	0.363000													12	79					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3720358	3720358	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:3720358G>C	ENST00000324932.7	-	25	4383	c.3963C>G	c.(3961-3963)ctC>ctG	p.L1321L	NUP98_ENST00000359171.4_Silent_p.L1321L|NUP98_ENST00000355260.3_Silent_p.L1321L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1338					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTGCCTGTGAGGTAGCTGA	0.547000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								19	98					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61766936	61766936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:61766936C>T	ENST00000361357.3	+	12	1315	c.997C>T	c.(997-999)Caa>Taa	p.Q333*	MAP3K3_ENST00000577395.1_Nonsense_Mutation_p.Q298*|MAP3K3_ENST00000361733.3_Nonsense_Mutation_p.Q302*|MAP3K3_ENST00000584573.1_Nonsense_Mutation_p.Q329*|MAP3K3_ENST00000579585.1_Nonsense_Mutation_p.Q333*|MAP3K3_ENST00000577784.1_3'UTR	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	302					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ACGGCGTCATCAAGGCAACTT	0.592000													4	13					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049011	58049011	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:58049011C>T	ENST00000376233.3	+	4	820	c.639C>T	c.(637-639)agC>agT	p.S213S	ZNF549_ENST00000240719.3_Silent_p.S200S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATAGAAGCAGGGAGACCT	0.438000													9	52					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152680029	152680029	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:152680029C>G	ENST00000263985.6	-	2	262	c.222G>C	c.(220-222)caG>caC	p.Q74H	PET112_ENST00000512306.1_Missense_Mutation_p.Q74H|PET112_ENST00000515812.1_Missense_Mutation_p.Q74H|PET112_ENST00000508611.1_Missense_Mutation_p.Q74H	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	74						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGAGGAAATCTGGGCATGAA	0.378000													30	45					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382524	41382524	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:41382524G>C	ENST00000377801.3	-	2	290	c.216C>G	c.(214-216)ctC>ctG	p.L72L	PLCXD3_ENST00000328457.3_Silent_p.L72L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	72	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATTTCCGCATGAGCTTTTTGG	0.463000													9	180					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37905235	37905235	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:37905235C>T	ENST00000316950.6	-	6	882	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ZNF569_ENST00000592490.1_3'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.E109K|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTTTCTTCAGTCAGTGTT	0.353000													9	43					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113342289	113342289	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:113342289G>C	ENST00000264852.4	+	22	2832	c.2106G>C	c.(2104-2106)ttG>ttC	p.L702F	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.L707F	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	702						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCTTTGGATTGATATACCGCC	0.517000													17	171					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96692049	96692049	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:96692049G>A	ENST00000434632.1	-	12	1496	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	GPAT2_ENST00000453542.1_Missense_Mutation_p.S275L|GPAT2_ENST00000377137.3_Missense_Mutation_p.S346L|GPAT2_ENST00000359548.4_Missense_Mutation_p.S346L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	346					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGGGGGGCCGAGGCCTGCAA	0.647000													4	20					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308235	20308235	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:20308235A>T	ENST00000335117.8	+	4	773	c.716A>T	c.(715-717)aAa>aTa	p.K239I	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAACCCTACAAATGTGAAGAA	0.388000													8	48					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187985	166187985	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:166187985C>T	ENST00000375437.2	+	14	2585	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	SCN2A_ENST00000375427.2_Silent_p.I765I|SCN2A_ENST00000283256.6_Silent_p.I765I|SCN2A_ENST00000357398.3_Silent_p.I765I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	765					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACCTGGCCATCACCATCTGCA	0.443000													29	117					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202487	39202487	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:39202487G>C	ENST00000351578.6	-	2	766	c.576C>G	c.(574-576)ctC>ctG	p.L192L	FYB_ENST00000505428.1_Silent_p.L192L|FYB_ENST00000515010.1_Silent_p.L192L|FYB_ENST00000512982.1_Silent_p.L192L|FYB_ENST00000540520.1_Silent_p.L202L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	192					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTTTGGGGAAGAGGGGCTTGG	0.493000													29	173					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64815196	64815196	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:64815196A>G	ENST00000332707.5	+	9	1554	c.1025A>G	c.(1024-1026)gAt>gGt	p.D342G		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	342	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGGATGATGATATTTCTTCT	0.299000													24	41					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831538	47831538	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr21:47831538G>A	ENST00000359568.5	+	28	5658	c.5551G>A	c.(5551-5553)Gac>Aac	p.D1851N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1851					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGAGGTCGAAGACATGGCCTC	0.612000													5	53					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73578394	73578394	+	Missense_Mutation	SNP	C	C	G	rs149000433		TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:73578394C>G	ENST00000394936.3	-	13	1666	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	PSAP_ENST00000394934.1_Missense_Mutation_p.E509Q			P07602	SAP_HUMAN	prosaposin	507	Saposin A-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GCTGCTGTCTCTGTGTTCTGG	0.537000													133	28					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831823	831823	+	Silent	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:831823C>A	ENST00000233997.2	+	5	723	c.702C>A	c.(700-702)ctC>ctA	p.L234L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	234	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGTGGCGCTCTTCCGAGACT	0.701000													16	58					9.16793e-09	9.64798e-09	1	1	0
ZPBP	11055	broad.mit.edu	37	7	50097593	50097593	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:50097593G>A	ENST00000046087.2	-	4	548	c.479C>T	c.(478-480)gCt>gTt	p.A160V	ZPBP_ENST00000419417.1_Missense_Mutation_p.A159V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	160					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACCATATATAGCATATTTTAG	0.284000													7	28					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193119499	193119499	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:193119499C>G	ENST00000367435.3	+	9	1078	c.894C>G	c.(892-894)ttC>ttG	p.F298L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	298					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGGAAAGATTCAAAGGAAAAG	0.403000													18	33					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27250652	27250652	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:27250652G>A	ENST00000321265.5	+	2	277	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	52					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGGGATGGCAGAGAAGGTAAG	0.458000													14	22					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932836	36932836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:36932836C>T	ENST00000338937.5	-	13	1940	c.1941G>A	c.(1939-1941)tgG>tgA	p.W647*	CSF3R_ENST00000373103.1_Missense_Mutation_p.E679K|CSF3R_ENST00000440588.2_Missense_Mutation_p.E679K|CSF3R_ENST00000373106.1_Missense_Mutation_p.E679K|CSF3R_ENST00000373104.1_Missense_Mutation_p.E679K|CSF3R_ENST00000361632.4_Missense_Mutation_p.E679K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E679K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E679K|CSF3R_ENST00000487540.2_5'UTR			Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	0					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCACCTCCTCCATGATTGTG	0.607000													24	27					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681452	24681452	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:24681452G>A	ENST00000222644.5	+	3	485	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	MPP6_ENST00000396475.2_Missense_Mutation_p.E79K|MPP6_ENST00000409761.1_5'UTR			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 2.				protein complex assembly		protein binding	p.E79K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAATGTGGCAGAATTGGTTGG	0.378000													23	34					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32400206	32400206	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:32400206A>C	ENST00000265069.8	-	9	1721	c.1619T>G	c.(1618-1620)gTa>gGa	p.V540G		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	540					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GTCTTGCTTTACTTCAGGAAT	0.438000													10	161					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282631	59282631	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:59282631G>C	ENST00000329328.3	+	1	246	c.246G>C	c.(244-246)ctG>ctC	p.L82L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTAAGGTCCTGATAGATCTTC	0.463000													40	92					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923440	13923440	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:13923440G>C	ENST00000265104.4	-	4	491	c.387C>G	c.(385-387)ttC>ttG	p.F129L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTGATGAAGAACACACATA	0.458000									Kartagener syndrome				26	491					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792476	44792476	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:44792476C>G	ENST00000291182.4	-	5	1214	c.1112G>C	c.(1111-1113)gGa>gCa	p.G371A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G371A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGCTTCTCTCCTGTGTGAAT	0.448000													21	17					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025174	172025174	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:172025174C>G	ENST00000336824.4	+	10	1182	c.1083C>G	c.(1081-1083)tcC>tcG	p.S361S	FNDC3B_ENST00000415807.2_Silent_p.S361S|FNDC3B_ENST00000416957.1_Silent_p.S361S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	361	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGTACAATTCCGTAAAGGGAT	0.493000													10	56					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205029	26205029	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:26205029G>A	ENST00000360441.4	+	1	172	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	53					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCTCATCTACGAGGAGACTCG	0.562000													4	37					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11348134	11348134	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:11348134C>T	ENST00000294618.7	-	18	2082	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	DOCK6_ENST00000319867.7_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	691	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCACATACATCGGGTGTGAGC	0.627000													12	37					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36853105	36853105	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:36853105G>C	ENST00000270001.7	-	3	160	c.45C>G	c.(43-45)ttC>ttG	p.F15L	ZFP14_ENST00000589280.1_Missense_Mutation_p.F15L	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTTCCTGTGAGAAGTCTATGG	0.388000													9	48					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13168526	13168526	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:13168526C>T	ENST00000319217.7	-	22	3340	c.3093G>A	c.(3091-3093)atG>atA	p.M1031I	MPDZ_ENST00000541718.1_Missense_Mutation_p.M1031I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M1031I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M1031I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M1031I|MPDZ_ENST00000536827.1_Missense_Mutation_p.M1031I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M1031I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1031	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCGAACGATCATCCCCAAGC	0.378000													102	28					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844195	32844195	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:32844195G>A	ENST00000311921.4	+	2	651	c.459G>A	c.(457-459)gtG>gtA	p.V153V	ZNF507_ENST00000544431.1_Silent_p.V153V|ZNF507_ENST00000355898.5_Silent_p.V153V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V153V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATGAAGTGATACTGATGT	0.418000													19	56					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153247906	153247906	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:153247906C>G	ENST00000369982.4	+	2	1140	c.393C>G	c.(391-393)ctC>ctG	p.L131L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	131				L -> F (in Ref. 2; CAG33328).		integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGTGCCTCTACCTAGACC	0.677000													4	8					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170417041	170417041	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:170417041T>C	ENST00000453153.2	-	5	1173	c.827A>G	c.(826-828)aAa>aGa	p.K276R	FASTKD1_ENST00000453929.2_Missense_Mutation_p.K276R	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	276					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTGTAGAAATTTGTATACACT	0.284000													33	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697704	113697704	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:113697704G>A	ENST00000297405.5	-	15	2657	c.2413C>T	c.(2413-2415)Cac>Tac	p.H805Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.H701Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.H765Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H805Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	805	CUB 4.					integral to membrane|plasma membrane		p.H765Y(1)|p.H805Y(1)		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						CGCAGTATGTGACTATTACTA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	103					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67325713	67325713	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:67325713G>A	ENST00000304372.5	-	13	2301	c.2246C>T	c.(2245-2247)cCc>cTc	p.P749L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	749						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACTGGCCTCGGGCAGAGGCTG	0.507000													6	23					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836699	4836699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:4836699C>T	ENST00000329125.5	+	2	875	c.800C>T	c.(799-801)tCa>tTa	p.S267L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	267										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGTGACAATTCAGACAAGTTT	0.507000													8	46					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092236	151092236	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:151092236G>A	ENST00000360243.2	+	3	367	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MAGEA4_ENST00000393920.1_Missense_Mutation_p.E34K|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E34K|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E34K|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E34K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E34K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E34K	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	34							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTACTACTGAGGAGCAGGA	0.617000													14	44					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432843	4432843	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:4432843C>G	ENST00000304735.3	+	2	2120	c.1965C>G	c.(1963-1965)ctC>ctG	p.L655L	CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	655						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGTGCCACTCATGGGCTTCC	0.657000													3	2					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046476	156046476	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:156046476G>A	ENST00000532414.2	-	2	1451	c.1452C>T	c.(1450-1452)tgC>tgT	p.C484C		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	484						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGTTGTGTCCGCAGGGCACAA	0.632000													4	23					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137113081	137113081	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:137113081G>T	ENST00000359015.4	-	1	575	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	72					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGCTCGAGGAGGTGGCCGC	0.711000													5	19					1	1	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56495022	56495022	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:56495022C>T	ENST00000267101.3	+	27	3819	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	ERBB3_ENST00000450146.2_Missense_Mutation_p.R484C|ERBB3_ENST00000549832.1_Missense_Mutation_p.R247C|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1068C|ERBB3_ENST00000553131.1_Missense_Mutation_p.R368C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1127			R -> H (in dbSNP:rs2271188).		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)			CCCACGGCCACGCGGAGATAG	0.587000													10	25					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042211	205042211	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:205042211G>A	ENST00000331830.4	+	22	3144	c.2860G>A	c.(2860-2862)Gac>Aac	p.D954N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	954	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTACCAGAATGACTTACACCT	0.537000													8	7					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449309	25449309	+	RNA	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:25449309C>T	ENST00000424208.1	+	0	2208				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTCCTCCTGTCCCCCCAGATG	0.607000													2	1					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:27687295G>C	ENST00000438700.3	-	4	2349	c.2232C>G	c.(2230-2232)atC>atG	p.I744M		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000													5	48					0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	541370	541370	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:541370G>A	ENST00000215574.4	+	5	747	c.529G>A	c.(529-531)Gag>Aag	p.E177K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	177					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTGGACGCGGAGCGTGACGG	0.711000													10	4					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109457	151109457	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:151109457G>A	ENST00000341697.3	-	11	2541	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	284	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTTGAGCCGAAGCTTCAGG	0.577000													60	90					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16004574	16004574	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:16004574C>G	ENST00000268712.3	-	20	2937	c.2680G>C	c.(2680-2682)Gag>Cag	p.E894Q	NCOR1_ENST00000395848.1_Missense_Mutation_p.E801Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.E910Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	894					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTCTGCCTCTCTGGCTCTCCA	0.562000													5	60					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130407803	130407803	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:130407803C>G	ENST00000370904.1	-	26	4861	c.3951G>C	c.(3949-3951)caG>caC	p.Q1317H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1331H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1326H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1317H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1326					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGAGATTCTCTGAGAGGTTG	0.478000													74	73					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397126	125397126	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:125397126C>G	ENST00000536769.1	-	1	2768	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	UBC_ENST00000339647.5_Missense_Mutation_p.E398Q|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.E322Q			P0CG48	UBC_HUMAN	ubiquitin C	398	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCACTCGGCTCCACCTCGAGA	0.532000													83	119					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797668	241797668	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:241797668C>T	ENST00000366553.1	-	1	1564	c.1401G>A	c.(1399-1401)aaG>aaA	p.K467K	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	467					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTAAATCTGTCTTTAGTATAG	0.418000													6	94					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359040	66359040	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:66359040T>C	ENST00000333861.3	-	1	1514	c.1447A>G	c.(1447-1449)Att>Gtt	p.I483V		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	483										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTTATCAATATCCATTTTT	0.453000													66	121					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32536202	32536202	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:32536202C>T	ENST00000357033.4	-	18	2421	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	DMD_ENST00000288447.4_Missense_Mutation_p.E731K|DMD_ENST00000378677.2_Missense_Mutation_p.E735K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	739					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E735Q(1)|p.E734Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACACAGCTTCTGAGCGAGTA	0.338000													6	92					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148895472	148895472	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:148895472C>T	ENST00000262085.3	+	2	318	c.213C>T	c.(211-213)ttC>ttT	p.F71F	ZNF282_ENST00000479907.1_Silent_p.F71F	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	71					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTTTCAGTTCCCACCCTTTC	0.592000													15	70					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39920611	39920611	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:39920611C>T	ENST00000564288.1	+	89	21694	c.20917C>T	c.(20917-20919)Cgt>Tgt	p.R6973C	MACF1_ENST00000361689.2_Missense_Mutation_p.R4914C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5416C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7010C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4784C|MACF1_ENST00000545844.1_Missense_Mutation_p.R4914C|MACF1_ENST00000317713.7_Missense_Mutation_p.R4914C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6872C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6872					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACCAGCAGCGTCTTGAAAC	0.522000													14	45					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139646	71139646	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:71139646G>C	ENST00000283228.2	-	6	1411	c.959C>G	c.(958-960)tCt>tGt	p.S320C	PTPRR_ENST00000378778.1_Missense_Mutation_p.S114C|PTPRR_ENST00000549308.1_Missense_Mutation_p.S75C|PTPRR_ENST00000342084.4_Missense_Mutation_p.S208C|PTPRR_ENST00000440835.2_Missense_Mutation_p.S75C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	320					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGGCAAACAGAGGTAGCGGT	0.483000													18	48					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559137	1559137	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:1559137C>T	ENST00000381605.4	-	2	344	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SIRPB1_ENST00000381603.3_Missense_Mutation_p.E94K|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E93K|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E94K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	94	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTTGTGAGTTCTGAAACAGTT	0.512000													37	198					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587824	86587824	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:86587824G>C	ENST00000376263.3	-	10	803	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	HNRNPK_ENST00000360384.5_Missense_Mutation_p.L194V|HNRNPK_ENST00000376281.4_Missense_Mutation_p.L194V|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Missense_Mutation_p.L194V|HNRNPK_ENST00000351839.3_Missense_Mutation_p.L194V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	194	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCTCCAATAAGAACAACTCTG	0.343000													9	84					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157771462	157771462	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:157771462C>G	ENST00000502773.1	-	2	715	c.225G>C	c.(223-225)tgG>tgC	p.W75C	PDGFC_ENST00000422544.2_Missense_Mutation_p.W75C|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	75	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTACTAATCTCCATACCAAGA	0.383000													13	25					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140166660	140166660	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:140166660C>G	ENST00000343053.4	+	11	1810	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GCTTCTTCCTCACCGCCTCTC	0.622000													5	116					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72430561	72430561	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:72430561C>T	ENST00000285805.3	-	4	916	c.717G>A	c.(715-717)gaG>gaA	p.E239E	TRIM74_ENST00000395244.1_Silent_p.E239E	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	239						intracellular	zinc ion binding			prostate(1)	1						CCCAGATGAACTCATGGTGGT	0.632000													32	32					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77807378	77807378	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:77807378G>A	ENST00000407578.2	-	18	2916	c.2650C>T	c.(2650-2652)Cct>Tct	p.P884S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P846S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P846S|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATAAAAATAGGACCAGCAAAT	0.388000													43	52					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255858	9255858	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:9255858G>C	ENST00000262126.4	+	9	2833	c.2593G>C	c.(2593-2595)Gat>Cat	p.D865H	ANKRD12_ENST00000383440.2_Missense_Mutation_p.D842H|ANKRD12_ENST00000400020.3_Missense_Mutation_p.D842H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAATGTGTTGATAAAATAAA	0.308000													4	21					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958763	51958763	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:51958763C>T	ENST00000321424.3	-	4	1026	c.960G>A	c.(958-960)gtG>gtA	p.V320V	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Silent_p.V227V|SIGLEC8_ENST00000430817.1_Silent_p.V211V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	320	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTTCATCCCTCACGTGCACTC	0.642000													9	19					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457058	159457058	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:159457058C>T	ENST00000367066.3	-	10	2328	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTTTCCATCGCTCAGGCAG	0.627000													19	29					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19764808	19764808	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:19764808C>T	ENST00000357324.6	-	14	1985	c.1959G>A	c.(1957-1959)gtG>gtA	p.V653V	ATP13A1_ENST00000291503.5_Silent_p.V535V|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	653					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCCCCCTTCACGGCCGCGA	0.647000													4	7					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418823	44418823	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:44418823C>T	ENST00000269973.5	-	10	1855	c.765G>A	c.(763-765)agG>agA	p.R255R	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.R255R	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	255			R -> K (in dbSNP:rs399098).		multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TCCCAACATTCCTCCCACACT	0.453000													35	102					0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65050180	65050180	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:65050180C>G	ENST00000226021.3	+	2	369	c.298C>G	c.(298-300)Cag>Gag	p.Q100E		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	100					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	ATTCACCACTCAGAAGGGTGA	0.527000													23	27					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637110	45637110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:45637110C>T	ENST00000273317.4	+	1	760	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Nonsense_Mutation_p.Q247*	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	247					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTCGGTGGTCAGAATAGTGG	0.622000													16	18					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102710861	102710861	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:102710861C>T	ENST00000299855.5	-	6	1169	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	305	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATCAGGATTTCTCCCCTCAGA	0.458000													28	72					0	0	1	0	0
SNRPD1	6632	broad.mit.edu	37	18	19203799	19203799	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:19203799G>C	ENST00000300413.5	+	3	345	c.182G>C	c.(181-183)cGa>cCa	p.R61P	SNRPD1_ENST00000579618.1_Intron|SNRPD1_ENST00000582475.1_Missense_Mutation_p.R17P	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding			lung(2)|prostate(1)	3						CTGAGTATTCGAGGAAATAAC	0.403000													26	59					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43109959	43109959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:43109959G>C	ENST00000230419.4	+	13	2190	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	PTK7_ENST00000349241.2_Missense_Mutation_p.E527Q|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.E665Q|PTK7_ENST00000345201.2_Missense_Mutation_p.E617Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	657	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CGTGGCCCCTGAGGACTCAGG	0.622000													7	72					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24710891	24710891	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:24710891G>A	ENST00000399423.4	-	3	719	c.389C>T	c.(388-390)tCg>tTg	p.S130L	TINF2_ENST00000540705.1_Missense_Mutation_p.S95L|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000558566.1_Missense_Mutation_p.S130L|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.S130L	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	130					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTGCAGCTTCGAGGCCAAATC	0.468000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				15	25					0	0	1	0	0
CPQ	10404	broad.mit.edu	37	8	97892102	97892102	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:97892102G>A	ENST00000220763.5	+	4	928	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	240					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GGAAGATGCAGAAATGATGTC	0.463000													26	214					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077824	41077824	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr22:41077824C>T	ENST00000249016.4	+	2	1857	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	MCHR1_ENST00000381433.2_Silent_p.F261F|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	387					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GTGAGACGTTCCGCAAACGCT	0.572000													6	136					0	0	1	0	0
ZNF620	253639	broad.mit.edu	37	3	40552976	40552976	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:40552976G>C	ENST00000314529.6	+	3	189	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGTGACCTTTGAGGATGTGGC	0.512000													41	39					0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206643	21206643	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:21206643G>C	ENST00000357374.2	-	1	499	c.454C>G	c.(454-456)Ctt>Gtt	p.L152V		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	152					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATTAGATAAAGAGTGATTCTT	0.453000													233	63					0	0	1	0	0
GSTM1	2944	broad.mit.edu	37	1	110230832	110230832	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:110230832C>G	ENST00000309851.5	+	2	131	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM1_ENST00000349334.3_Nonsense_Mutation_p.S26*|GSTM1_ENST00000483399.2_Nonsense_Mutation_p.S26*|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_Intron|GSTM1_ENST00000369819.2_Nonsense_Mutation_p.S26*|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369823.2_Nonsense_Mutation_p.S26*	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	26	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TACACAGACTCAAGCTATGAG	0.592000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				49	10					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639021	3639021	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:3639021C>T	ENST00000294008.3	-	12	5258	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1540	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTAACCCTTCGGGCTTCTGA	0.572000								Direct reversal of damage					4	172					0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146870651	146870651	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:146870651G>A	ENST00000367495.3	+	2	481	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	101					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GAAGCTGTTGGTGCTTTTGTA	0.368000													41	58					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33927951	33927951	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:33927951G>A	ENST00000389232.4	+	26	3382	c.3312G>A	c.(3310-3312)gcG>gcA	p.A1104A	RYR3_ENST00000415757.3_Silent_p.A1104A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1104	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1104A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGCTGGGCGAGGCCAGGCT	0.517000													4	13					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384539	53384539	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:53384539C>G	ENST00000595635.1	-	8	1341	c.840G>C	c.(838-840)aaG>aaC	p.K280N	ZNF320_ENST00000391781.2_Missense_Mutation_p.K280N|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GAGCGAAGGTCTTGCCACACT	0.418000													27	95					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882145	228882145	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:228882145C>G	ENST00000392056.3	-	7	3471	c.3425G>C	c.(3424-3426)aGa>aCa	p.R1142T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1142T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1142						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCAAATCCTCTCCCTTCATT	0.527000													15	14					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68592414	68592414	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:68592414G>C	ENST00000570495.1	+	4	491	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	ZFP90_ENST00000398253.2_Missense_Mutation_p.E67Q|ZFP90_ENST00000570884.1_3'UTR|ZFP90_ENST00000563169.2_Missense_Mutation_p.E67Q|ZFP90_ENST00000564323.1_Missense_Mutation_p.E67Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	67	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTCAAATTGGAGCAAGGAGA	0.423000													17	18					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6263973	6263973	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:6263973G>C	ENST00000400104.3	-	5	392	c.192C>G	c.(190-192)gtC>gtG	p.V64V	L3MBTL4_ENST00000400105.2_Silent_p.V64V|L3MBTL4_ENST00000317931.7_Silent_p.V64V|L3MBTL4_ENST00000284898.6_Silent_p.V64V			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	64					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)				CAGGTGCTGCGACAGCCTTCT	0.433000													6	26					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741614	53741614	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:53741614C>G	ENST00000333952.4	-	5	531	c.366G>C	c.(364-366)ttG>ttC	p.L122F	ZNF677_ENST00000598513.1_Missense_Mutation_p.L122F			Q86XU0	ZN677_HUMAN	zinc finger protein 677	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTTACAGGTCAAAGGCATTC	0.353000													36	54					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135522335	135522335	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:135522335G>T	ENST00000372159.3	-	12	1544	c.1393C>A	c.(1393-1395)Cct>Act	p.P465T	DDX31_ENST00000372153.1_Missense_Mutation_p.P465T|DDX31_ENST00000438527.3_Missense_Mutation_p.P336T|DDX31_ENST00000310532.2_Missense_Mutation_p.P465T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	465						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GCTGGTGGAGGACAGACCTCC	0.522000													17	27					9.16793e-09	9.64798e-09	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151845790	151845790	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:151845790C>G	ENST00000355193.2	-	53	13611	c.13393G>C	c.(13393-13395)Gaa>Caa	p.E4465Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E4408Q					lysine (K)-specific methyltransferase 2C																		CCATCACCTTCTTCATGACAA	0.453000													67	24					0	0	1	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4663239	4663239	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr9:4663239C>G	ENST00000381883.2	+	1	942	c.864C>G	c.(862-864)ctC>ctG	p.L288L	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	288						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTCCGGTCCTCTTTTTACTGT	0.483000													23	97					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063799	3063799	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:3063799G>C	ENST00000445369.2	+	1	1343	c.436G>C	c.(436-438)Gac>Cac	p.D146H		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	146					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CATCATCCAGGACTTCTACAA	0.687000													4	47					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9583925	9583925	+	Silent	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:9583925G>C	ENST00000301480.4	-	5	381	c.168C>G	c.(166-168)ctC>ctG	p.L56L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	56	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGGTTTAAAGAGCTGAAATC	0.453000													16	145					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100391801	100391801	+	RNA	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:100391801G>T	ENST00000542585.1	+	0	8256				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGCTCACGGATCCTGCTGT	0.622000													43	16					1.32136e-16	1.4317e-16	1	1	0
BCKDHA	593	broad.mit.edu	37	19	41925047	41925047	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:41925047G>A	ENST00000269980.2	+	5	860	c.492G>A	c.(490-492)ctG>ctA	p.L164L	BCKDHA_ENST00000595085.1_Silent_p.L198L|BCKDHA_ENST00000457836.2_Silent_p.L142L|CTC-435M10.3_ENST00000540732.1_Silent_p.L198L|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	164					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TAGGTGTGCTGATGTATCGGG	0.597000													4	44					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613215	51613215	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:51613215G>A	ENST00000371117.3	-	58	9474	c.9199C>T	c.(9199-9201)Ctg>Ttg	p.L3067L	PKHD1_ENST00000340994.4_Silent_p.L3067L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3067					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGTCATCAGAACCACAAGG	0.473000													26	110					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124256154	124256154	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:124256154G>C	ENST00000409039.3	+	3	147	c.122G>C	c.(121-123)cGt>cCt	p.R41P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	41	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGCTAAGCGTGTGTCACTG	0.408000													4	11					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605067	52605067	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:52605067G>C	ENST00000521776.2	+	2	2860	c.2127G>C	c.(2125-2127)caG>caC	p.Q709H		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	709					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGAACACCCAGAGGGCTTTCC	0.498000													4	127					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63053319	63053319	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:63053319A>T	ENST00000263991.5	+	6	892	c.410A>T	c.(409-411)aAa>aTa	p.K137I	AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.K137I|EHBP1_ENST00000405289.1_Missense_Mutation_p.K137I|EHBP1_ENST00000431489.1_Missense_Mutation_p.K137I|EHBP1_ENST00000354487.3_Missense_Mutation_p.K137I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	137						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTCAAGTTAAAATTCAAGCCA	0.403000													27	60					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109039	36109039	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:36109039G>A	ENST00000203166.5	+	10	788	c.763G>A	c.(763-765)Gag>Aag	p.E255K	HAUS5_ENST00000379045.2_Missense_Mutation_p.E255K	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	255					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCAGAGCGGGAGGCAGAGAT	0.627000													10	57					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097327	99097327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:99097327C>G	ENST00000337673.6	-	1	593	c.390G>C	c.(388-390)gaG>gaC	p.E130D	ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.E130D	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	130	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTCCCCGCTCTCTGGGCAGT	0.647000													12	111					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365755	13365755	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:13365755C>T	ENST00000379287.3	-	2	1057	c.393G>A	c.(391-393)atG>atA	p.M131I	GFOD1_ENST00000379284.1_Missense_Mutation_p.M28I	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	131						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCAGCTGCTTCATGCGCACGA	0.642000													55	12					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481533	136481533	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr2:136481533G>A	ENST00000264160.4	+	26	3341	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	R3HDM1_ENST00000409606.1_Missense_Mutation_p.E992K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.E862K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.E936K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.E863K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	991							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAATTACTGAACTACCAGA	0.443000													5	37					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130656283	130656283	+	Silent	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:130656283C>T	ENST00000510168.1	+	6	886	c.336C>T	c.(334-336)atC>atT	p.I112I	ATP2C1_ENST00000533801.2_Silent_p.I107I|ATP2C1_ENST00000422190.2_Silent_p.I112I|ATP2C1_ENST00000507488.2_Silent_p.I96I|ATP2C1_ENST00000393221.4_Silent_p.I146I|ATP2C1_ENST00000513801.1_Silent_p.I96I|ATP2C1_ENST00000504948.1_Silent_p.I96I|ATP2C1_ENST00000328560.8_Silent_p.I112I|ATP2C1_ENST00000505330.1_Silent_p.I96I|ATP2C1_ENST00000504381.1_Silent_p.I57I|ATP2C1_ENST00000508532.1_Silent_p.I112I|ATP2C1_ENST00000359644.3_Silent_p.I112I|ATP2C1_ENST00000428331.2_Silent_p.I112I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	112				I -> F (in Ref. 2; AAF35375).	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CAATACTTATCGTTGTTACAG	0.328000									Hailey-Hailey disease				41	62					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19049104	19049104	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chrX:19049104G>C	ENST00000379878.3	-	8	549	c.308C>G	c.(307-309)tCa>tGa	p.S103*	GPR64_ENST00000379876.1_Nonsense_Mutation_p.S95*|GPR64_ENST00000379869.3_Nonsense_Mutation_p.S119*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.S89*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.S105*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.S89*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.S97*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.S103*|GPR64_ENST00000379873.2_Nonsense_Mutation_p.S119*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.S116*	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	119					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GAACTAACCTGAGTCATTGCA	0.388000													13	228					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613768	27613768	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr17:27613768G>C	ENST00000225388.4	-	2	1302	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	415	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGCCCATTAGAAAAGTTGGC	0.468000													9	101					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79565545	79565545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr10:79565545G>T	ENST00000372391.2	-	27	5047	c.5042C>A	c.(5041-5043)tCa>tAa	p.S1681*	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Nonsense_Mutation_p.S1341*	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1681					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCAGCCGCTGACAGCGTCTT	0.557000													10	70					0.000978159	0.000994656	1	1	0
KCNG4	93107	broad.mit.edu	37	16	84256054	84256054	+	Silent	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr16:84256054G>A	ENST00000308251.4	-	3	1397	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	443						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCATGATGAGGATCCCGCTCA	0.637000													6	72					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21711248	21711248	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:21711248C>T	ENST00000261195.2	-	11	1563		c.e11-1			NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)						glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACTGTCGCTGAAGTATGA	0.448000													15	27					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832550	11832550	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:11832550C>G	ENST00000341191.6	-	4	1952	c.1799G>C	c.(1798-1800)aGa>aCa	p.R600T	ZNF823_ENST00000545749.1_Missense_Mutation_p.R418T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTTTTATGTCTATGCAAGGA	0.393000										HNSCC(68;0.2)			4	55					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745405	145745405	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:145745405C>G	ENST00000292524.1	+	2	442	c.296C>G	c.(295-297)tCa>tGa	p.S99*	LRRC14_ENST00000529022.1_Nonsense_Mutation_p.S99*	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	99										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTCCACACCTCAGAGCCTGGG	0.647000													5	46					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168370544	168370544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:168370544C>T	ENST00000366806.2	+	34	5546	c.5404C>T	c.(5404-5406)Caa>Taa	p.Q1802*	MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1721*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1812*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1809*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1802*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1802					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTCACAAGGTCAAGATGTATC	0.408000			T	MLL	AL								7	18					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40112154	40112154	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr20:40112154C>G	ENST00000373233.3	-	16	2440	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	755					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATTTTCTCCTCTGCTCCTGAA	0.433000													4	10					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145267981	145267981	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:145267981C>T	ENST00000423230.2	+	12	1323	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	MROH1_ENST00000534366.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000527071.1_Intron|MROH1_ENST00000528919.1_Intron|MROH1_ENST00000326134.5_Intron	NM_001099280.1|NM_001099281.1	NP_001092750|NP_001092751			maestro heat-like repeat family member 1																		CGTGCTGCTCCGCAGCCTGCT	0.557000													26	68					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958790	54958790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:54958790G>A	ENST00000273286.5	-	2	622	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Nonsense_Mutation_p.Q78*|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	154						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TGGTTTTGTTGAACCGCAAGT	0.493000													11	132					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28500171	28500171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:28500171G>T	ENST00000412168.2	+	4	522	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	145					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGGTGAAAAAGAACAGAAAGT	0.433000													7	84					8.12818e-05	8.38168e-05	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144889739	144889739	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:144889739G>A	ENST00000356994.2	-	16	2167	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	SCRIB_ENST00000320476.3_Missense_Mutation_p.R721C|SCRIB_ENST00000377533.3_Missense_Mutation_p.R640C	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	721	Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCTCAATGCGAGCAGGCTCT	0.632000													31	80					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96293693	96293693	+	Silent	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:96293693C>G	ENST00000347108.3	-	3	885	c.453G>C	c.(451-453)ctG>ctC	p.L151L	DZIP1_ENST00000361396.2_Silent_p.L151L|DZIP1_ENST00000376829.2_Silent_p.L151L|DZIP1_ENST00000361156.3_Silent_p.L151L|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	151					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CGCAGTGGCTCAGGCGCAGCC	0.592000													8	47					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160025478	160025478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr3:160025478G>A	ENST00000326448.7	-	10	1481	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S521L|IFT80_ENST00000496589.1_Missense_Mutation_p.S213L|IFT80_ENST00000483465.1_Missense_Mutation_p.S213L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	350						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGAGACGTTGAAACAACTAA	0.358000													12	83					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533285	70533285	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr8:70533285G>C	ENST00000260128.4	+	14	2110	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	SULF1_ENST00000458141.2_Missense_Mutation_p.E465Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E465Q|SULF1_ENST00000419716.3_Missense_Mutation_p.E465Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	465					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAATGCATTGAGGATACATC	0.478000													31	34					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21628952	21628952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:21628952C>G	ENST00000328843.6	+	12	2131	c.2100C>G	c.(2098-2100)ttC>ttG	p.F700L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F700L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	700	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTGTGAATTCAATTTGAATC	0.308000									Kartagener syndrome				16	51					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64067105	64067105	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:64067105C>G	ENST00000443617.2	-	2	805	c.718G>C	c.(718-720)Gac>Cac	p.D240H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	240					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTAAAGTGTCTGCCCCAGAA	0.428000													19	37					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127595503	127595503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr5:127595503C>A	ENST00000508053.1	-	71	9357	c.8383G>T	c.(8383-8385)Gag>Tag	p.E2795*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2795*			P35556	FBN2_HUMAN	fibrillin 2	2795					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGACACTCTCTAGGCTGATC	0.532000													13	46					0.00244969	0.00248608	1	1	0
ROR1	4919	broad.mit.edu	37	1	64643586	64643586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:64643586delT	ENST00000371079.1	+	9	2237	c.1862delT	c.(1861-1863)attfs	p.I621fs	ROR1_ENST00000545203.1_Frame_Shift_Del_p.I72fs	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	621	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCTCGCAATATTTTAATCGGA	0.448													54	52	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128385	152128388	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:152128385_152128388delTGTC	ENST00000316073.3	-	3	1251_1254	c.1187_1190delGACA	c.(1186-1191)agacaafs	p.RQ396fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	396	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTTTGGTCTTGTCTGTCTGTCTG	0.505													8	784	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234614798	234614798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr1:234614798delC	ENST00000040877.1	-	1	51	c.52delG	c.(52-54)gccfs	p.A18fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	18					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CCAAGCAGGGCCCGGGGGTCC	0.746													2	4	---	---	---	---					
ADAM29	11086	broad.mit.edu	37	4	175898199	175898199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr4:175898199delT	ENST00000359240.3	+	5	2193	c.1523delT	c.(1522-1524)attfs	p.I508fs	ADAM29_ENST00000445694.1_Frame_Shift_Del_p.I508fs|ADAM29_ENST00000514159.1_Frame_Shift_Del_p.I508fs|ADAM29_ENST00000404450.4_Frame_Shift_Del_p.I508fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	508	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAGGAGGATTTTTGGTGCA	0.443													18	44	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30570643	30570643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:30570643delC	ENST00000376511.2	-	18	2489	c.1937delG	c.(1936-1938)ggafs	p.G646fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	646	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCCCAGGTCCAGGGGGAAA	0.537													2	4	---	---	---	---					
EYS	346007	broad.mit.edu	37	6	66063466	66063467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr6:66063466_66063467insA	ENST00000503581.1	-	9	1880_1881	c.1343_1344insT	c.(1342-1344)ttgfs	p.L448fs	EYS_ENST00000370618.3_Frame_Shift_Ins_p.L448fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.L448fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.L448fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.L448fs|EYS_ENST00000370621.3_Frame_Shift_Ins_p.L448fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	448					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAACATTCTTCAAAAACCAACA	0.351													17	52	---	---	---	---					
ITGB8	3696	broad.mit.edu	37	7	20438491	20438504	+	Frame_Shift_Del	DEL	TTCAGAAGTGAAAG	TTCAGAAGTGAAAG	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr7:20438491_20438504delTTCAGAAGTGAAAG	ENST00000222573.4	+	9	1839_1852	c.1155_1168delTTCAGAAGTGAAAG	c.(1153-1170)atttcagaagtgaaagttfs	p.SEVKV386fs	ITGB8_ENST00000537992.1_Frame_Shift_Del_p.SEVKV251fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGAAGCTCATTTCAGAAGTGAAAGTTCAGGTGGA	0.388													12	24	---	---	---	---					
SLC35F2	54733	broad.mit.edu	37	11	107729444	107729444	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr11:107729444delT	ENST00000525071.1	-	4	638	c.50delA	c.(49-51)gagfs	p.E17fs	SLC35F2_ENST00000525815.1_Frame_Shift_Del_p.E17fs|SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Frame_Shift_Del_p.E17fs			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	17					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CGCCGCTCCCTCCGCGAGGGG	0.716													2	4	---	---	---	---					
SLC6A12	6539	broad.mit.edu	37	12	300314	300314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr12:300314delC	ENST00000428720.1	-	16	2508	c.1765delG	c.(1765-1767)gatfs	p.D589fs	SLC6A12_ENST00000536824.1_Frame_Shift_Del_p.D589fs|SLC6A12_ENST00000424061.2_Frame_Shift_Del_p.D589fs|SLC6A12_ENST00000397296.2_Frame_Shift_Del_p.D589fs|SLC6A12_ENST00000359674.4_Frame_Shift_Del_p.D589fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	589					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCACTGCCATCCAAGCAGGGA	0.602													2	4	---	---	---	---					
UGGT2	55757	broad.mit.edu	37	13	96665687	96665690	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr13:96665687_96665690delTTTG	ENST00000376747.3	-	5	601_604	c.531_534delCAAA	c.(529-534)aacaaafs	p.NK177fs	UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	177					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTAAGTTCTCTTTGTTTGTAGGAA	0.328													9	54	---	---	---	---					
MARK3	4140	broad.mit.edu	37	14	103932400	103932401	+	In_Frame_Ins	INS	-	-	AAATCC			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr14:103932400_103932401insAAATCC	ENST00000429436.2	+	9	1379_1380	c.869_870insAAATCC	c.(868-873)ctaaat>ctAAATCCaaat	p.291_292insPN	MARK3_ENST00000440884.3_In_Frame_Ins_p.212_213insPN|MARK3_ENST00000416682.2_In_Frame_Ins_p.314_315insPN|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000553942.1_In_Frame_Ins_p.291_292insPN|MARK3_ENST00000216288.7_In_Frame_Ins_p.291_292insPN|MARK3_ENST00000335102.5_In_Frame_Ins_p.314_315insPN|MARK3_ENST00000303622.9_In_Frame_Ins_p.291_292insPN	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	291	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTCCTGGTGCTAAATCCAATTA	0.406													8	63	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20666436	20666436	+	RNA	DEL	T	T	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:20666436delT	ENST00000428453.1	-	0	874																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAAGTAAAGATTTTCTTACTG	0.443													18	15	---	---	---	---					
AKAP13	11214	broad.mit.edu	37	15	86265459	86265461	+	Splice_Site	DEL	AGA	AGA	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr15:86265459_86265461delAGA	ENST00000394518.2	+	25	6473_6474	c.6378_6379delAGA	c.(6376-6381)aaagaa>aaaa	p.E2127del	AKAP13_ENST00000394510.2_Splice_Site_p.E372del|AKAP13_ENST00000361243.2_Splice_Site_p.E2131del|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2127	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACTCCCTTGCAGAAGAAGATGAG	0.424													26	152	---	---	---	---					
CHST9	83539	broad.mit.edu	37	18	24496385	24496385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr18:24496385delC	ENST00000284224.8	-	6	1447	c.1170delG	c.(1168-1170)ctgfs	p.L390fs	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Frame_Shift_Del_p.L390fs|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	390					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TGGGAAATTTCAGCTCCTTTG	0.393													105	82	---	---	---	---					
SIGLEC9	27180	broad.mit.edu	37	19	51628988	51628988	+	Frame_Shift_Del	DEL	T	T	-	rs147995854	byFrequency	TCGA-G2-AA3B-01A-11D-A391-08	TCGA-G2-AA3B-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd2b3514-e8c8-420c-9639-18b0f156a11a	39b5f19f-4fea-44bc-8d8f-d2efcabf6c22	g.chr19:51628988delT	ENST00000440804.3	+	2	623	c.556delT	c.(556-558)tccfs	p.S186fs	SIGLEC9_ENST00000250360.3_Frame_Shift_Del_p.S186fs	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	186	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACCTCCGTGTCCCCCCTGGA	0.667													8	85	---	---	---	---