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
CD14	929	broad.mit.edu	37	5	140011718	140011718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:140011718G>T	ENST00000302014.6	-	2	1480	c.851C>A	c.(850-852)tCg>tAg	p.S284*	CD14_ENST00000401743.2_Nonsense_Mutation_p.S284*	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	284					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGAACGACAGATTGAG	0.617000													34	7					1.30998e-17	1.47561e-17	1	1	0
ZNF569	148266	broad.mit.edu	37	19	37916821	37916821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:37916821C>A	ENST00000316950.6	-	5	744	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	ZNF569_ENST00000589833.1_Nonsense_Mutation_p.E87*|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.E63*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	63	KRAB.				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)			GGTTCTTCTTCTTGCTCCAAT	0.448000													38	399					4.67007e-22	5.3217e-22	1	1	0
EIF5B	9669	broad.mit.edu	37	2	99993023	99993023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:99993023C>T	ENST00000289371.6	+	10	1968	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAATGAGCTCAGATTCTGAA	0.388000													8	80					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995822	61995822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:61995822G>A	ENST00000323322.5	-	2	97	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.P19S|GH1_ENST00000351388.4_Missense_Mutation_p.P19S|GH1_ENST00000458650.2_Missense_Mutation_p.P19S	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	19					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGAAGCCAGGGCAGGCAGAGC	0.612000													63	73					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146397433	146397433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:146397433G>A	ENST00000442909.2	+	6	1086	c.250G>A	c.(250-252)Gag>Aag	p.E84K	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.E84K					neuroblastoma breakpoint family, member 12											ovary(2)	2						GAAGCTTGCAGAGCAGCTGAA	0.532000													12	305					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192010	66192010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:66192010C>T	ENST00000311034.2	+	7	1825	c.1649C>T	c.(1648-1650)cCa>cTa	p.P550L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	550					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAAACCTTCCCAGAGCAACTG	0.577000													49	66					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44870230	44870230	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chrX:44870230G>C	ENST00000377967.4	+	5	450	c.409G>C	c.(409-411)Ggt>Cgt	p.G137R	KDM6A_ENST00000536777.1_Missense_Mutation_p.G137R|KDM6A_ENST00000543216.1_Missense_Mutation_p.G137R|KDM6A_ENST00000382899.4_Missense_Mutation_p.G137R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	137					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(12)|p.0?(6)|p.?(1)		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						ATATGGTCTTGGTTTGGTCTA	0.303000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	3					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229608	140229608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:140229608G>A	ENST00000378122.3	+	1	2252	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.V510M|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCAGTGCACGCGGA	0.697000													25	109					0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822222	1822222	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:1822222C>T	ENST00000177742.3	-	3	708	c.678G>A	c.(676-678)taG>taA	p.*226*	MRPS34_ENST00000397375.2_Silent_p.*219*			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	0						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						TTCTGGCATTCTAGACGGGGG	0.567000													28	42					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60868959	60868959	+	Silent	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:60868959T>C	ENST00000439951.2	+	13	1482	c.1059T>C	c.(1057-1059)ccT>ccC	p.P353P	OSBPL2_ENST00000313733.3_3'UTR|OSBPL2_ENST00000358053.2_3'UTR|OSBPL2_ENST00000471817.1_3'UTR			Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	0					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TGGAGGGGCCTGGGGCCCGGG	0.592000													8	60					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551798	125551798	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr9:125551798C>T	ENST00000373680.2	+	1	649	c.587C>T	c.(586-588)aCc>aTc	p.T196I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCAGTGACACCAGTCTCAAT	0.552000													4	42					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147703994	147703994	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:147703994G>C	ENST00000367481.3	+	25	3274	c.3166G>C	c.(3166-3168)Ggg>Cgg	p.G1056R	STXBP5_ENST00000321680.6_Missense_Mutation_p.G1092R|STXBP5_ENST00000179882.6_Missense_Mutation_p.G747R|STXBP5_ENST00000367480.3_Missense_Mutation_p.G1039R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1092					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCGTAAAAGGGGCAGCATC	0.502000													9	274					0	0	1	0	0
RPL41	6171	broad.mit.edu	37	12	56510574	56510574	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:56510574G>C	ENST00000546591.1	+	1	205	c.3G>C	c.(1-3)atG>atC	p.M1I	RPL41_ENST00000501597.3_Start_Codon_SNP_p.M1I|RPL41_ENST00000552314.1_3'UTR	NM_001035267.1	NP_001030344.1	P62945	RL41_HUMAN	ribosomal protein L41	1					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome							OV - Ovarian serous cystadenocarcinoma(18;0.12)			TCTGCGCCATGAGAGCCAAGG	0.517000													97	138					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146397441	146397441	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:146397441G>A	ENST00000442909.2	+	6	1094	c.258G>A	c.(256-258)ctG>ctA	p.L86L	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Silent_p.L86L					neuroblastoma breakpoint family, member 12											ovary(2)	2						CAGAGCAGCTGAAACAAGCTG	0.512000													11	300					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42779976	42779976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr21:42779976G>A	ENST00000330714.3	+	14	2148	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	655	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTTATGCTCCGAGAGAATGGT	0.473000													4	54					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46136262	46136262	+	Silent	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:46136262G>C	ENST00000252934.5	+	9	1282	c.1017G>C	c.(1015-1017)gtG>gtC	p.V339V	ATXN10_ENST00000381061.4_Silent_p.V275V	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	339					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTTGCGGGTGATTCATGTAG	0.363000													10	84					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42269859	42269859	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:42269859G>C	ENST00000361204.4	+	5	1091	c.925G>C	c.(925-927)Gag>Cag	p.E309Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	309	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GATGGGGCAAGAGAAAGTGCC	0.502000													19	18					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37014335	37014335	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:37014335G>T	ENST00000379242.3	+	12	1276	c.974G>T	c.(973-975)cGa>cTa	p.R325L	VIT_ENST00000404084.1_Missense_Mutation_p.R262L|VIT_ENST00000401530.1_Missense_Mutation_p.R289L|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.R288L|VIT_ENST00000389975.3_Missense_Mutation_p.R310L	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	310	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CGGCGATTCCGAATCCAGAAG	0.483000													4	54					0.150653	0.151168	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150909295	150909295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chrX:150909295C>T	ENST00000329903.4	+	4	437	c.404C>T	c.(403-405)cCa>cTa	p.P135L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	135					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTGGACCCAGCTGGGGAT	0.542000													104	22					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174189	106174189	+	RNA	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:106174189C>G	ENST00000390547.2	-	0	599																											AAGTGAAGGTCTTCCCATGGT	0.632000													3	21					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413624	105413624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:105413624G>A	ENST00000333244.5	-	7	8283	c.8164C>T	c.(8164-8166)Ccc>Tcc	p.P2722S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2722						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTCCCTCGGGAACGTGGCCC	0.602000													9	138					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088575	57088575	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:57088575G>A	ENST00000330619.8	+	6	1464	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.E260K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGTATTGAATGTGGAAA	0.383000													10	98					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101717593	101717593	+	Nonstop_Mutation	SNP	T	T	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr15:101717593T>G	ENST00000254190.3	-	3	2884	c.2409A>C	c.(2407-2409)taA>taC	p.*803Y	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	0					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTGGACATTAGGCTGTCC	0.363000													5	67					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32207403	32207403	+	Silent	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:32207403A>G	ENST00000492345.1	+	6	1126	c.441A>G	c.(439-441)ccA>ccG	p.P147P	CBFA2T2_ENST00000397798.2_Silent_p.P147P|CBFA2T2_ENST00000359606.3_Silent_p.P186P|CBFA2T2_ENST00000346541.3_Silent_p.P176P|CBFA2T2_ENST00000375279.2_Silent_p.P176P|CBFA2T2_ENST00000344201.3_Silent_p.P147P|CBFA2T2_ENST00000342704.6_Silent_p.P167P|CBFA2T2_ENST00000397800.1_Silent_p.P147P|CBFA2T2_ENST00000491618.1_3'UTR			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	176	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGATTCCATTTCTCAAGG	0.353000													16	23					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19744922	19744922	+	Missense_Mutation	SNP	G	G	A	rs146830752	by1000genomes	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:19744922G>A	ENST00000203556.4	-	19	2299	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	GMIP_ENST00000445806.2_Missense_Mutation_p.P692L|GMIP_ENST00000587238.1_Missense_Mutation_p.P695L|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	721	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCCGTCCGGCGGCCGCAGCAG	0.612000													3	31					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250196	35250196	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:35250196C>G	ENST00000329285.8	-	4	1883	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAGGGCTTCTCTCCAGTGTGA	0.428000													8	133					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29679318	29679318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:29679318G>T	ENST00000358273.4	+	51	7884	c.7501G>T	c.(7501-7503)Gaa>Taa	p.E2501*	NF1_ENST00000444181.2_Nonsense_Mutation_p.E294*|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2480*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2501					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E2501fs*22(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAGGTTCTGAAGGATACCT	0.483000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	77					4.93089e-13	5.4705e-13	1	1	0
RNF128	79589	broad.mit.edu	37	X	106034371	106034371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chrX:106034371G>A	ENST00000255499.2	+	6	1310	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	RNF128_ENST00000324342.3_Missense_Mutation_p.E328K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	354						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CTCCTCCCATGAAGAGGATAA	0.433000													5	76					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348324	155348324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:155348324C>T	ENST00000368346.3	-	9	6847	c.6208G>A	c.(6208-6210)Gat>Aat	p.D2070N	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2065N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2070					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGGGACATCTGGCTTTTTG	0.338000													10	78					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1326633	1326633	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:1326633A>T	ENST00000303400.4	+	6	808	c.745A>T	c.(745-747)Acg>Tcg	p.T249S	MAEA_ENST00000505839.1_Missense_Mutation_p.T201S|MAEA_ENST00000505177.2_Missense_Mutation_p.T287S|MAEA_ENST00000514708.1_Missense_Mutation_p.H182L|MAEA_ENST00000510794.1_Missense_Mutation_p.T248S|MAEA_ENST00000452175.2_Missense_Mutation_p.T170S|MAEA_ENST00000264750.6_Missense_Mutation_p.T208S|MAEA_ENST00000512289.1_3'UTR	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	249					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCCGCCCGACACGCACATCTC	0.607000													3	16					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37550074	37550074	+	Silent	SNP	A	A	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:37550074A>C	ENST00000264741.5	+	8	1109	c.853A>C	c.(853-855)Aga>Cga	p.R285R	ITGA9_ENST00000422441.1_Silent_p.R285R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	285					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCTGACCGAAGATCAGGCAC	0.343000													20	12					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73980889	73980889	+	Silent	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:73980889G>C	ENST00000553558.1	-	6	1581	c.1260C>G	c.(1258-1260)ccC>ccG	p.P420P	HEATR4_ENST00000560393.1_Silent_p.P373P|HEATR4_ENST00000334988.2_Silent_p.P420P	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TATCCTTGGCGGGGGTGGGCA	0.567000													4	19					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160136418	160136418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:160136418C>T	ENST00000368081.4	+	8	1619	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	383					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCATCTGCTCAGACAAGACG	0.602000													4	140					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7604997	7604997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:7604997C>T	ENST00000316024.5	+	6	3193	c.845C>T	c.(844-846)tCg>tTg	p.S282L	WRAP53_ENST00000457584.2_Missense_Mutation_p.S282L|WRAP53_ENST00000396463.2_Missense_Mutation_p.S282L|WRAP53_ENST00000431639.2_Missense_Mutation_p.S282L|WRAP53_ENST00000534050.1_Missense_Mutation_p.S249L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	282					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCAGCCCATTCGCTCTGCTTC	0.617000													10	96					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979603	230979603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:230979603C>T	ENST00000366663.5	-	3	564	c.424G>A	c.(424-426)Gag>Aag	p.E142K	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.E104K|C1orf198_ENST00000523410.1_Missense_Mutation_p.E12K	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	142										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGCTCGGCTCCTGGATGGAT	0.582000													21	105					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896872	227896872	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:227896872C>T	ENST00000396625.3	-	39	3905	c.3698G>A	c.(3697-3699)gGa>gAa	p.G1233E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1233E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1233	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTGGGGGTCCTGGGGGACC	0.507000													9	50					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34856954	34856954	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:34856954G>A	ENST00000431794.3	-	22	2724	c.2202C>T	c.(2200-2202)gcC>gcT	p.A734A	MYO19_ENST00000268852.9_Silent_p.A534A	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	734						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGTGCATGGGGGCTGGCATGG	0.567000													5	130					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20475836	20475836	+	Silent	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:20475836G>C	ENST00000202677.7	-	36	5299	c.5292C>G	c.(5290-5292)gcC>gcG	p.A1764A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATCTCCAAAGGCAGTTGGGA	0.438000													6	118					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13049120	13049120	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr18:13049120A>G	ENST00000506447.1	+	16	2410	c.2330A>G	c.(2329-2331)aAt>aGt	p.N777S	CEP192_ENST00000325971.8_Missense_Mutation_p.N181S|CEP192_ENST00000430049.2_Missense_Mutation_p.N302S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	372										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATGGATCCAATGCACTTGAT	0.338000													8	27					0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124449459	124449459	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:124449459G>A	ENST00000232607.2	+	1	247	c.141G>A	c.(139-141)ccG>ccA	p.P47P	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	47	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		TGTCTCGACCGCGTCTTCTGA	0.587000													3	39					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46228632	46228632	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:46228632G>T	ENST00000306156.3	+	7	1240	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	PRKCE_ENST00000394874.1_Missense_Mutation_p.D28Y	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	305					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)			AGTACTGGCCGACCTGGGCGT	0.527000													31	22					1.06801e-11	1.18043e-11	1	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122958142	122958142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:122958142C>G	ENST00000543897.1	-	12	3667	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E676Q|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E287Q|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E438Q			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	676						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GCCATATTCTCAAATTCAAAT	0.423000													4	85					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	984716	984716	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:984716C>T	ENST00000448903.2	+	7	918	c.777C>T	c.(775-777)gtC>gtT	p.V259V	AP2A2_ENST00000534328.1_Silent_p.V259V|AP2A2_ENST00000332231.5_Silent_p.V259V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	259					axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTCTGTCAAACTGCTGA	0.557000													25	87					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806089	1806089	+	Missense_Mutation	SNP	G	G	T	rs121913479		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:1806089G>T	ENST00000340107.4	+	9	1370	c.1114G>T	c.(1114-1116)Ggc>Tgc	p.G372C	FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C|FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	370					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G370C(108)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGACGAGGCGGGCAGTGTGTA	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				71	47					9.13743e-30	1.04938e-29	1	1	0
LMO7	4008	broad.mit.edu	37	13	76374861	76374861	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr13:76374861C>A	ENST00000357063.3	+	8	1920	c.660C>A	c.(658-660)gaC>gaA	p.D220E	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.D220E|LMO7_ENST00000341547.4_Missense_Mutation_p.D220E|LMO7_ENST00000526202.1_Missense_Mutation_p.D129E			Q8WWI1	LMO7_HUMAN	LIM domain 7	220						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GTGGCAGGGACAGTGGCTACG	0.408000													9	94					0.000442599	0.000464729	1	1	0
GTF2I	2969	broad.mit.edu	37	7	74114641	74114641	+	Silent	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:74114641G>T	ENST00000324896.4	+	5	827	c.438G>T	c.(436-438)tcG>tcT	p.S146S	GTF2I_ENST00000346152.4_Silent_p.S146S|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000443166.1_Silent_p.S146S|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Silent_p.S146S|GTF2I_ENST00000353920.4_Silent_p.S146S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	146					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAGACCAGTCGGCTGTGGTAG	0.488000													13	135					6.72482e-11	7.40486e-11	1	1	0
MCM7	4176	broad.mit.edu	37	7	99695910	99695910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:99695910C>T	ENST00000303887.5	-	7	1369	c.724G>A	c.(724-726)Gat>Aat	p.D242N	MCM7_ENST00000354230.3_Missense_Mutation_p.D66N|MCM7_ENST00000343023.6_Missense_Mutation_p.D242N	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	242					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GGCACCTGATCACTCTAGGGG	0.557000													14	11					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46724276	46724276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:46724276G>A	ENST00000311764.2	+	3	583	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCCCATGGGGAGACGTGTGT	0.463000													10	78					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160169389	160169389	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:160169389T>G	ENST00000358372.4	+	6	2197	c.440T>G	c.(439-441)tTt>tGt	p.F147C	WTAP_ENST00000337387.4_Missense_Mutation_p.F147C|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	147					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		p.F147S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCCTGGAAGTTTACGCCTGAT	0.458000													15	4					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599226	62599226	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:62599226C>T	ENST00000512091.2	+	7	1896	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000507625.1_Silent_p.H451H			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388000													4	21					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61854890	61854890	+	Silent	SNP	T	T	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:61854890T>A	ENST00000577390.1	-	6	1917	c.963A>T	c.(961-963)acA>acT	p.T321T	CDH8_ENST00000577730.1_Silent_p.T321T|CDH8_ENST00000584337.1_Silent_p.T321T|CDH8_ENST00000299345.6_Silent_p.T321T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	321	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAAAAGTGCTGTTCCATCTC	0.408000													4	41					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185550477	185550477	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:185550477C>T	ENST00000308394.4	-	8	1045	c.783G>A	c.(781-783)caG>caA	p.Q261Q	CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Silent_p.Q261Q	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	261					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TACATGGAATCTGTTTCTTTG	0.368000													21	84					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744845	54744845	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:54744845G>T	ENST00000440558.2	-	5	865	c.817C>A	c.(817-819)Cag>Aag	p.Q273K	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.Q273K|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.Q273K|LILRA6_ENST00000396365.2_Missense_Mutation_p.Q273K					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCCCAGCCTGGGGCTGCTGG	0.632000													4	78					0.00024832	0.000262612	1	1	0
NACA	4666	broad.mit.edu	37	12	57110801	57110801	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:57110801G>C	ENST00000454682.1	-	3	4794	c.4513C>G	c.(4513-4515)Ctg>Gtg	p.L1505V	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					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						ACAGCTGGCAGAGTGGGGGCC	0.597000			T	BCL6	NHL								6	49					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													47	64					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34175643	34175643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:34175643G>A	ENST00000266483.2	+	1	428	c.109G>A	c.(109-111)Gac>Aac	p.D37N	ALG10_ENST00000538927.1_Missense_Mutation_p.D37N|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	37					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCCCTACATGGACGAGATCTT	0.602000													27	130					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35628646	35628646	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:35628646C>T	ENST00000440995.2	+	2	143	c.143C>T	c.(142-144)tCa>tTa	p.S48L	SPEF2_ENST00000282469.6_Missense_Mutation_p.S48L|SPEF2_ENST00000509059.1_Missense_Mutation_p.S48L|SPEF2_ENST00000356031.3_Missense_Mutation_p.S48L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	48	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGATTTTTCAGAATTTTTG	0.368000													10	42					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55589838	55589838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:55589838G>A	ENST00000288135.5	+	8	1417	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	440	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATAGATTGGTATTTTTGTC	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				6	31					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563514	46563514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:46563514C>G	ENST00000458649.2	-	7	2471	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q	AMBRA1_ENST00000533727.1_Missense_Mutation_p.E595Q|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E685Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E685Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E685Q|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E595Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E685Q			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	685					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)		GAATCCTCCTCAGAGCTCTCC	0.493000													13	61					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566715	42566715	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:42566715C>A	ENST00000262895.3	-	4	432	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	GRIK5_ENST00000593562.1_Missense_Mutation_p.V145F|GRIK5_ENST00000301218.4_Missense_Mutation_p.V145F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	145						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCCAAGCTGACGTCCTCGTTA	0.582000													16	84					3.32936e-07	3.61192e-07	1	1	0
DDX52	11056	broad.mit.edu	37	17	36002258	36002258	+	Missense_Mutation	SNP	G	G	A	rs139568647		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:36002258G>A	ENST00000349699.2	-	2	210	c.167C>T	c.(166-168)cCa>cTa	p.P56L	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	56						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)				ACACACACCTGGGACAGACTT	0.408000													12	83					0	0	1	0	0
IL19	29949	broad.mit.edu	37	1	207014375	207014375	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:207014375G>A	ENST00000270218.6	+	6	1329	c.390G>A	c.(388-390)agG>agA	p.R130R	IL19_ENST00000340758.2_Silent_p.R168R	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	130					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GTCACTGCAGGCAGGAAGCCA	0.517000													27	14					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22034630	22034630	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr8:22034630C>T	ENST00000306385.5	+	5	1378	c.708C>T	c.(706-708)atC>atT	p.I236I	BMP1_ENST00000397816.3_Silent_p.I236I|BMP1_ENST00000354870.5_Silent_p.I236I|BMP1_ENST00000306349.8_Silent_p.I236I|BMP1_ENST00000397814.3_Silent_p.I236I	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	236	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACGTTTCCATCGTTCGTGAGA	0.662000													3	5					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143810346	143810346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:143810346C>T	ENST00000367591.4	+	12	1168	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	369					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TAGTACCCCTCAGCAACTGGA	0.343000													9	133					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89317230	89317230	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:89317230G>C	ENST00000380265.5	+	6	1006	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	HERC6_ENST00000264346.7_Missense_Mutation_p.E275Q|HERC6_ENST00000273960.3_Missense_Mutation_p.E275Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	275					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCCCACTCCTGAGAAGAGAGG	0.433000													14	44					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186123062	186123062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:186123062G>A	ENST00000271588.4	+	97	15428	c.15199G>A	c.(15199-15201)Gac>Aac	p.D5067N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D5067N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5067	Nidogen G2 beta-barrel.				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						TGTGGAATCTGACTATAACCA	0.393000													3	19					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965239	6965239	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:6965239G>A	ENST00000229268.8	+	4	415	c.363G>A	c.(361-363)aaG>aaA	p.K121K	USP5_ENST00000389231.5_Silent_p.K121K	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	121					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGGATGTGAAGATTGTCATTT	0.502000													5	200					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8158359	8158359	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:8158359C>A	ENST00000314666.6	+	4	426	c.293C>A	c.(292-294)aCc>aAc	p.T98N	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	98					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AACTTCTCCACCCCAACATCC	0.632000													7	26					1.12685e-05	1.21353e-05	1	1	0
FANCA	2175	broad.mit.edu	37	16	89813088	89813088	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:89813088C>T	ENST00000389301.3	-	35	3447	c.3417G>A	c.(3415-3417)ctG>ctA	p.L1139L	FANCA_ENST00000568369.1_Silent_p.L1139L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1139					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)		GACAGGCGTTCAGGAGGCCCT	0.567000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	10					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56490899	56490899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:56490899C>G	ENST00000267101.3	+	20	2785	c.2345C>G	c.(2344-2346)tCt>tGt	p.S782C	ERBB3_ENST00000415288.2_Missense_Mutation_p.S723C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S23C|ERBB3_ENST00000450146.2_Missense_Mutation_p.S139C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	782	Protein kinase.				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)			CCAGGGTCATCTCTGCAGCTT	0.537000													196	52					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36776163	36776163	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr13:36776163A>T	ENST00000379881.3	-	2	204	c.116T>A	c.(115-117)cTa>cAa	p.L39Q	SOHLH2_ENST00000317764.6_Missense_Mutation_p.L39Q|SOHLH2_ENST00000554962.1_Missense_Mutation_p.L116Q|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.L116Q	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTTTGCAAATAGTTTCTGTAC	0.438000													6	113					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84780156	84780156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:84780156C>G	ENST00000389394.3	+	10	1737	c.1600C>G	c.(1600-1602)Ctg>Gtg	p.L534V	DNAH6_ENST00000398278.2_Missense_Mutation_p.L534V|DNAH6_ENST00000237449.6_Missense_Mutation_p.L534V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	534	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAAGACTTTCTGGTGTGTGT	0.418000													6	129					0	0	1	0	0
COMMD7	149951	broad.mit.edu	37	20	31292698	31292698	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:31292698C>G	ENST00000278980.6	-	6	950	c.345G>C	c.(343-345)caG>caC	p.Q115H	COMMD7_ENST00000446419.2_Missense_Mutation_p.Q114H	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	115					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						TGGGAGCATTCTGCTTCCACT	0.433000													4	66					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69727153	69727153	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:69727153A>T	ENST00000337827.4	+	1	473	c.146A>T	c.(145-147)cAg>cTg	p.Q49L	GALNT16_ENST00000553669.1_Missense_Mutation_p.Q49L|GALNT16_ENST00000448469.3_Missense_Mutation_p.Q49L|RP11-363J20.2_ENST00000556316.1_lincRNA	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		AGGTCGGAGCAGCTCCGCGAG	0.716000													9	2					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132403616	132403616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:132403616G>A	ENST00000337331.5	-	24	3438	c.3352C>T	c.(3352-3354)Cgt>Tgt	p.R1118C	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1118					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTAAGGAACGCTTCAGAAAC	0.418000													19	44					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38963098	38963098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:38963098C>T	ENST00000357387.3	-	17	1476	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M482I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	482					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTCGTTTCTTCATTTCATGGA	0.388000													5	61					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750186	30750186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:30750186C>T	ENST00000262518.4	+	34	9210	c.8825C>T	c.(8824-8826)cCc>cTc	p.P2942L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2784L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2880L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2942	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)			CGAGGACGACCCCCTAAAGCA	0.592000													6	29					0	0	1	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890152	159890152	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:159890152C>G	ENST00000368097.4	-	2	458	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	TAGLN2_ENST00000368096.1_Missense_Mutation_p.E71Q|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E50Q	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	50	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAAGTTCTCGCGTCCAGGC	0.587000													4	96					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334014	12334014	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:12334014C>G	ENST00000261349.4	-	6	1412	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	LRP6_ENST00000543091.1_Missense_Mutation_p.E446Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	446	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGGGGTTCCTCTAAGTCCTCT	0.438000													61	17					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056108	26056108	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:26056108C>T	ENST00000343677.2	-	1	591	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	183					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGGCAGCTTTCTTGGGCTTCG	0.552000													44	65					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931086	42931086	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:42931086C>G	ENST00000244289.4	-	1	492	c.216G>C	c.(214-216)caG>caC	p.Q72H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	72					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TAGGTTCCTTCTGGGATTCAG	0.522000													7	210					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:112103071G>A	ENST00000457016.1	+	4	786	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	APC_ENST00000257430.4_Missense_Mutation_p.E136K|APC_ENST00000508376.2_Missense_Mutation_p.E136K			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E136K(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			3	39					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684682	26684682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:26684682C>G	ENST00000272371.2	-	43	5541	c.5415G>C	c.(5413-5415)aaG>aaC	p.K1805N	OTOF_ENST00000339598.3_Missense_Mutation_p.K1038N|OTOF_ENST00000403946.3_Missense_Mutation_p.K1805N|OTOF_ENST00000338581.6_Missense_Mutation_p.K1038N|OTOF_ENST00000402415.3_Missense_Mutation_p.K1115N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1805					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATGACGATCTTCTCCTCCG	0.592000													46	66					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847623	22847623	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:22847623G>C	ENST00000456783.2	+	4	1396	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACACATAAGAGAATTCATA	0.383000													6	63					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67697324	67697324	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:67697324C>G	ENST00000243878.4	-	6	1200	c.879G>C	c.(877-879)caG>caC	p.Q293H	ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1																		GGTACTCACTCTGGAGCAGCT	0.687000													13	26					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702409	43702409	+	Missense_Mutation	SNP	G	G	C	rs138406653	byFrequency	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:43702409G>C	ENST00000405312.3	-	3	686	c.449C>G	c.(448-450)tCc>tGc	p.S150C	PSG4_ENST00000244295.9_Missense_Mutation_p.S150C|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	150	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTGGAGATGGAGGGCTTGGG	0.502000													5	197					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69727147	69727147	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:69727147C>G	ENST00000337827.4	+	1	467	c.140C>G	c.(139-141)tCg>tGg	p.S47W	GALNT16_ENST00000553669.1_Missense_Mutation_p.S47W|GALNT16_ENST00000448469.3_Missense_Mutation_p.S47W|RP11-363J20.2_ENST00000556316.1_lincRNA	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GGCAGGAGGTCGGAGCAGCTC	0.706000													11	2					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898393	104898393	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr8:104898393G>A	ENST00000507740.1	+	2	1226	c.990G>A	c.(988-990)acG>acA	p.T330T	RIMS2_ENST00000262231.10_Silent_p.T330T|RIMS2_ENST00000436393.2_Silent_p.T300T|RIMS2_ENST00000406091.3_Silent_p.T522T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	553					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCTTCCACGCCTGAATATA	0.398000										HNSCC(12;0.0054)			4	65					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	278267	278267	+	Silent	SNP	G	G	A	rs142177613	byFrequency	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:278267G>A	ENST00000538872.1	+	12	3178	c.3060G>A	c.(3058-3060)ccG>ccA	p.P1020P	IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Silent_p.P717P|IQSEC3_ENST00000326261.4_Silent_p.P1020P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1020					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGGATCGCCGACAGGTGAGC	0.637000													6	37					0	0	1	0	0
DUT	1854	broad.mit.edu	37	15	48634228	48634228	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr15:48634228G>A	ENST00000331200.3	+	7	805	c.712G>A	c.(712-714)Gac>Aac	p.D238N	DUT_ENST00000558813.1_Missense_Mutation_p.D127N|DUT_ENST00000559416.1_Missense_Mutation_p.D153N|DUT_ENST00000559540.1_3'UTR|DUT_ENST00000455976.2_Missense_Mutation_p.D150N	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	238					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		GGCCTTGGATGACACCGAAAG	0.368000								Modulation of nucleotide pools					8	59					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405419	7405419	+	Silent	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:7405419G>T	ENST00000322644.6	+	15	2949	c.2550G>T	c.(2548-2550)acG>acT	p.T850T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	850					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)				TCATTGACACGGCTGTCAAGA	0.587000													5	13					0.0215528	0.0220018	1	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612220	44612220	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:44612220G>A	ENST00000273320.3	+	6	2047	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.D540N	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		AAATCTCATTGACCATCAGAG	0.448000													24	67					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635417	42635417	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:42635417T>G	ENST00000315323.3	+	1	493	c.361T>G	c.(361-363)Tgc>Ggc	p.C121G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	121	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGCCAGGGCTGCGAAGCCCT	0.662000													40	78					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412755	124412755	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:124412755G>T	ENST00000306842.2	-	1	820	c.796C>A	c.(796-798)Ccc>Acc	p.P266T		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGCTCGAGGGGCAGGATGGAA	0.438000													38	2					1.42033e-22	1.62482e-22	1	1	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782937	27782937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:27782937C>T	ENST00000359465.4	+	1	116	c.116C>T	c.(115-117)tCt>tTt	p.S39F		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	39					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAGAGCTACTCTGTGTATGTG	0.502000													24	108					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556398	48556398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:48556398C>A	ENST00000435803.1	+	52	13742	c.13718C>A	c.(13717-13719)tCa>tAa	p.S4573*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.S303*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4573					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTATGTCTCACTAAACTTC	0.418000													12	122					0.000151284	0.000161151	1	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161022267	161022267	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:161022267C>T	ENST00000368013.3	-	8	1223	c.903G>A	c.(901-903)gaG>gaA	p.E301E	ARHGAP30_ENST00000368015.1_Silent_p.E124E|ARHGAP30_ENST00000368016.3_Silent_p.E301E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	301					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TACGCTTAGTCTCATGGCCAG	0.547000													16	433					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33136131	33136131	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:33136131G>A	ENST00000297157.3	-	5	458	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	147	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			GTCGTTTATTGTCTCGTATGA	0.368000													6	80					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15307238	15307238	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:15307238C>T	ENST00000281513.5	-	52	7075	c.7050G>A	c.(7048-7050)gtG>gtA	p.V2350V	NBAS_ENST00000441750.1_Silent_p.V2230V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2350										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGTCCCCCTCACGGCCAGAA	0.647000													15	39					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15278173	15278173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:15278173C>T	ENST00000263388.2	-	29	5324	c.5249G>A	c.(5248-5250)tGg>tAg	p.W1750*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1750					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGTTGAGTCCACTGACGGCA	0.607000													8	30					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607085	46607085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:46607085C>T	ENST00000239174.6	-	2	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	244						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTGTGTTTCATTGAGCTCC	0.582000													17	169					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32813116	32813116	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:32813116A>C	ENST00000397452.1	-	14	1390	c.1280T>G	c.(1279-1281)aTt>aGt	p.I427S	BPIFC_ENST00000300399.3_Missense_Mutation_p.I427S|BPIFC_ENST00000534972.1_Missense_Mutation_p.I151S|BPIFC_ENST00000432451.2_Missense_Mutation_p.I184S			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	427						extracellular region	lipopolysaccharide binding|phospholipid binding										GGACGATAGAATATTTTCAAA	0.378000													12	225					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463372	26463372	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr10:26463372G>T	ENST00000265944.5	+	30	4345	c.4179G>T	c.(4177-4179)ttG>ttT	p.L1393F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1393					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCATAATTTGTATTCCTATC	0.388000													12	85					4.93089e-13	5.4705e-13	1	1	0
SRP68	6730	broad.mit.edu	37	17	74056415	74056415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:74056415C>T	ENST00000307877.2	-	7	972	c.811G>A	c.(811-813)Gag>Aag	p.E271K	SRP68_ENST00000539137.1_Missense_Mutation_p.E233K|SRP68_ENST00000355113.5_Missense_Mutation_p.E170K	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	271					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						AAGAGACCCTCAGTGCCCCCA	0.438000													9	69					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179228875	179228875	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:179228875G>A	ENST00000337755.5	-	1	1123	c.237C>T	c.(235-237)ctC>ctT	p.L79L	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Silent_p.L64L	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	64					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCAGGTTGAGCTCCTTGG	0.637000											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	3					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													5	68					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654820	15654820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:15654820G>A	ENST00000281171.4	+	5	1258	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PTPRO_ENST00000543886.1_Missense_Mutation_p.E310K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E310K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	310						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCCTGAAAGTGAAGATGAATT	0.443000													12	21					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24305783	24305783	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:24305783G>A	ENST00000238721.4	-	2	1232	c.378C>T	c.(376-378)ctC>ctT	p.L126L	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Silent_p.L126L|TP53I3_ENST00000335934.4_Silent_p.L126L|TP53I3_ENST00000407482.1_Silent_p.L126L|TP53I3_ENST00000417886.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	126					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGCGGTGAGCCAGGCCT	0.582000													6	6					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57974944	57974944	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:57974944C>A	ENST00000455537.2	+	24	3018	c.2744C>A	c.(2743-2745)tCt>tAt	p.S915Y	KIF5A_ENST00000286452.5_Missense_Mutation_p.S826Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	915	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGGGGCCATTCTGCCCAGATT	0.537000													3	12					0.004672	0.00481954	1	1	0
GRM7	2917	broad.mit.edu	37	3	7456818	7456818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:7456818C>G	ENST00000486284.1	+	5	1416	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*	GRM7_ENST00000403881.1_Nonsense_Mutation_p.S381*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.S381*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.S381*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.S381*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	381					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATTAGTGGGTCAAAAAAAGAA	0.423000													4	55					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151230955	151230955	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:151230955G>T	ENST00000274576.4	-	7	1200	c.908C>A	c.(907-909)cCc>cAc	p.P303H	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.P303H|GLRA1_ENST00000545569.1_Missense_Mutation_p.P220H	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	303					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACTTACCTTGGGCAGAGATGC	0.532000													3	16					0.00909568	0.0093501	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41066379	41066379	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:41066379G>A	ENST00000595535.1	+	27	6071	c.5985G>A	c.(5983-5985)ttG>ttA	p.L1995L	SPTBN4_ENST00000392023.1_Silent_p.L671L|SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000352632.3_Intron|SPTBN4_ENST00000392025.1_Intron			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	0					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCCCATTGACAGCCCCCT	0.607000													7	27					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185340655	185340655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:185340655G>A	ENST00000393593.3	-	3	362	c.155C>T	c.(154-156)gCa>gTa	p.A52V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	52					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AAAGAGTGGTGCATCTTTTTC	0.388000													19	64					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324229	158324229	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:158324229C>A	ENST00000368160.3	+	2	121	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q39K|CD1E_ENST00000368167.3_Missense_Mutation_p.Q41K|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q41K|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.Q41K|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.Q41K|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q41K|CD1E_ENST00000368165.3_Missense_Mutation_p.Q41K	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	41					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCGCATGCTCCAAACTTCCTC	0.542000													4	48					0.150653	0.151168	1	1	0
UTRN	7402	broad.mit.edu	37	6	144812185	144812185	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:144812185G>C	ENST00000367545.3	+	31	4384	c.4384G>C	c.(4384-4386)Gat>Cat	p.D1462H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1462	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCACGTTCTGGATGTGAAGGA	0.522000													137	2					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943708	11943708	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:11943708G>C	ENST00000304060.5	+	4	1881	c.1717G>C	c.(1717-1719)Gta>Cta	p.V573L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCTATGCATGTAAGGAATGT	0.458000													9	64					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37272086	37272086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:37272086G>C	ENST00000397147.4	+	8	1203	c.1019G>C	c.(1018-1020)aGg>aCg	p.R340T	NCF4_ENST00000248899.6_Missense_Mutation_p.E258D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCGCGGTGGAGGAAGATCTCA	0.597000													14	49					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35536319	35536319	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:35536319G>C	ENST00000353139.5	-	41	5442	c.4961C>G	c.(4960-4962)tCc>tGc	p.S1654C	ACACA_ENST00000360679.3_Missense_Mutation_p.S1559C|ACACA_ENST00000394406.2_Missense_Mutation_p.S1617C|ACACA_ENST00000335166.5_Missense_Mutation_p.S1539C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1617					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCTTGAGTGGACATAGACTC	0.408000													4	43					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51065098	51065098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:51065098C>T	ENST00000301180.5	+	5	591	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	186	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCCACTTCTTCATCCGCATCT	0.512000													113	60					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	84					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190532	27190532	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr9:27190532C>A	ENST00000380036.4	+	10	1775	c.1333C>A	c.(1333-1335)Cca>Aca	p.P445T	TEK_ENST00000406359.4_Missense_Mutation_p.P402T|TEK_ENST00000519097.1_Missense_Mutation_p.P298T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	445	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTTAGTTCTTCCAAAGCCCCT	0.418000													17	76					2.94398e-08	3.22959e-08	1	1	0
TMEM51	55092	broad.mit.edu	37	1	15546238	15546238	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:15546238G>A	ENST00000428417.1	+	3	1207	c.761G>A	c.(760-762)tGa>tAa	p.*254*	TMEM51_ENST00000376014.3_Silent_p.*254*|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Silent_p.*254*|TMEM51_ENST00000400796.3_Silent_p.*254*	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCGCCCGACTGAATGGCCCCA	0.597000													4	37					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822629	121822629	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:121822629T>C	ENST00000330540.2	+	3	451	c.335T>C	c.(334-336)aTc>aCc	p.I112T	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.I106T|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.I30T	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	112	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CAATGTATCATCCATCACAAA	0.443000													33	78					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39453498	39453498	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:39453498G>T	ENST00000301821.6	+	6	848	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	RPSA_ENST00000443003.1_Missense_Mutation_p.D252Y|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	247	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGAGGTTGCAGACTGGTCTGA	0.507000													4	64					0.184627	0.184627	1	1	0
L3MBTL4	91133	broad.mit.edu	37	18	6244536	6244536	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr18:6244536C>G	ENST00000400104.3	-	6	471	c.271G>C	c.(271-273)Gaa>Caa	p.E91Q	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E91Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E91Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E91Q			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	91					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)				TCAATGCCTTCTAATCTCATT	0.423000													19	96					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110819630	110819630	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:110819630G>A	ENST00000455511.3	-	8	1161	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	ANAPC7_ENST00000450008.2_Silent_p.G387G	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTGGACTCTGCCCATGTTCC	0.478000													5	29					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144800975	144800975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:144800975G>T	ENST00000367545.3	+	25	3364	c.3364G>T	c.(3364-3366)Gaa>Taa	p.E1122*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1122					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGGTTGTCTGAAAGTCAAGA	0.398000													6	122					0.0215528	0.0220018	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55248113	55248113	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:55248113C>T	ENST00000381298.2	-	12	1829	c.1517G>A	c.(1516-1518)aGc>aAc	p.S506N	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.S445N|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.S506N|IL6ST_ENST00000336909.5_Missense_Mutation_p.S506N	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	506	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGATTCAGGGCTTCCTGGTCC	0.358000			O		hepatocellular ca								6	54					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126644	100126644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:100126644C>T	ENST00000330710.5	+	5	1501	c.1403C>T	c.(1402-1404)cCg>cTg	p.P468L	HHIPL1_ENST00000357223.2_Missense_Mutation_p.P468L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	468					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TTCGCCTACCCGCACACGGTT	0.607000													4	28					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160804023	160804023	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:160804023G>T	ENST00000283243.7	-	26	3963	c.3757C>A	c.(3757-3759)Ccc>Acc	p.P1253T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.P1253T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1253					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTATCCAGGGAATAGATGTT	0.368000													9	91					3.09899e-07	3.37445e-07	1	1	0
TENM3	55714	broad.mit.edu	37	4	183603145	183603145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:183603145G>A	ENST00000511685.1	+	11	2136	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.W671*|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ACCCTAACTGGACTGGCCCAG	0.448000													4	33					0	0	1	0	0
SPIN4	139886	broad.mit.edu	37	X	62570096	62570096	+	Silent	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chrX:62570096C>A	ENST00000374884.2	-	1	1127	c.549G>T	c.(547-549)gtG>gtT	p.V183V	SPIN4_ENST00000335144.3_Silent_p.V201V|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	201					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CCTGCTTGCCCACGAGACTGT	0.463000													8	48					2.17888e-05	2.33792e-05	1	1	0
APOLD1	81575	broad.mit.edu	37	12	12940379	12940379	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:12940379C>G	ENST00000356591.4	+	2	625	c.540C>G	c.(538-540)atC>atG	p.I180M	APOLD1_ENST00000326765.6_Missense_Mutation_p.I211M	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	211					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		GCTTCCTCATCCCCAGGCGGG	0.632000													6	92					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2260563	2260563	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:2260563C>A	ENST00000402746.1	-	3	348	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000265854.7_Intron|MAD1L1_ENST00000406869.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	0					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCCCACCTGCCCACAGGGTCA	0.552000													9	12					0.0477658	0.0485922	1	1	0
PPP4R1	9989	broad.mit.edu	37	18	9595085	9595085	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr18:9595085G>C	ENST00000400556.3	-	3	192	c.119C>G	c.(118-120)tCa>tGa	p.S40*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.S23*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	40					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCATCTTGTGAGACAAAGTC	0.403000													15	33					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44110827	44110827	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:44110827C>A	ENST00000262419.6	-	12	3137		c.e12-1		KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding										CTCCCGCCAGCTGCAAAACCA	0.502000													36	37					8.69298e-16	9.71763e-16	1	1	0
ZC3H8	84524	broad.mit.edu	37	2	113012514	113012514	+	Silent	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:113012514G>C	ENST00000409573.2	-	1	174	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ZC3H8_ENST00000272570.5_Silent_p.L15L			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8						apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						CCGTTTTGCCGAGGGCCGGGT	0.532000													4	15					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15961853	15961853	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:15961853G>A	ENST00000268712.3	-	38	6199	c.5942C>T	c.(5941-5943)tCa>tTa	p.S1981L	NCOR1_ENST00000395851.1_Missense_Mutation_p.S1878L|NCOR1_ENST00000395857.3_Missense_Mutation_p.S565L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1981	Interaction with C1D (By similarity).				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)		TGGCGCAGGTGAGCTGGCAGG	0.423000													4	48					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887801	47887801	+	Silent	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:47887801C>A	ENST00000446256.2	+	12	1694	c.1122C>A	c.(1120-1122)ctC>ctA	p.L374L	DHX30_ENST00000348968.4_Silent_p.L385L|DHX30_ENST00000457607.1_Silent_p.L441L|DHX30_ENST00000445061.1_Silent_p.L413L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	413						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGTACGTCTCAGCCAGAGTC	0.622000													21	87					3.10358e-05	3.31801e-05	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87616339	87616339	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr8:87616339G>A	ENST00000320005.5	-	15	1810	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	588					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCCAAACACCGACCCAGCTTT	0.388000													5	50					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022269	161022269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:161022269C>T	ENST00000368013.3	-	8	1221	c.901G>A	c.(901-903)Gag>Aag	p.E301K	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E124K|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E301K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	301					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGCTTAGTCTCATGGCCAGAG	0.547000													17	428					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327081	57327081	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:57327081C>T	ENST00000326441.9	-	10	3092	c.2729G>A	c.(2728-2730)gGa>gAa	p.G910E	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G910E|PEG3_ENST00000598410.1_Missense_Mutation_p.G786E|PEG3_ENST00000593695.1_Missense_Mutation_p.G784E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	910					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATCCCTCTCCAGGAACACT	0.463000													10	106					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22375856	22375856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:22375856C>T	ENST00000397121.2	-	2	409	c.92G>A	c.(91-93)tGg>tAg	p.W31*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCATATTCCAGGGCTCTTT	0.418000													6	69					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441616	37441616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:37441616G>A	ENST00000415168.1	+	5	1745	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E521K|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTGAACATGAGAAAATTCA	0.378000													8	90					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91864773	91864773	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:91864773C>T	ENST00000394507.1	-	9	1456	c.673G>A	c.(673-675)Gca>Aca	p.A225T	KRIT1_ENST00000340022.2_Missense_Mutation_p.A225T|KRIT1_ENST00000412043.2_Missense_Mutation_p.A225T|KRIT1_ENST00000394505.2_Missense_Mutation_p.A225T|KRIT1_ENST00000394503.2_Missense_Mutation_p.A225T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	225					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)			CAGGTATCTGCTTTCTCTAGG	0.353000													4	92					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209045506	209045506	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:209045506T>C	ENST00000341287.4	-	6	524	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	C2orf80_ENST00000451346.1_Missense_Mutation_p.Y91C|C2orf80_ENST00000453017.1_Missense_Mutation_p.Y110C	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	110										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATCAGCCCCATAAATTTTAAA	0.338000													24	37					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17088054	17088054	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr10:17088054G>A	ENST00000377833.4	-	24	3434	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1123	CUB 6.				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)	TTGAGCCATAGAATATTCCCA	0.343000													42	42					0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135759350	135759350	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr9:135759350G>C	ENST00000372136.3	+	2	463	c.16G>C	c.(16-18)Gaa>Caa	p.E6Q	C9orf9_ENST00000350499.6_Missense_Mutation_p.E6Q|C9orf9_ENST00000356311.5_Missense_Mutation_p.E6Q			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	6								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TGAGGTGAAAGAATCCCTTCG	0.537000													6	56					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042417	5042417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:5042417G>A	ENST00000304328.5	+	14	2929	c.68G>A	c.(67-69)cGt>cAt	p.R23H	USP6_ENST00000332776.4_Intron|USP6_ENST00000574788.1_Intron|USP6_ENST00000250066.6_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					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						GACTACAGGCGTGTCGTCAGT	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	18					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659200	52659200	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:52659200T>C	ENST00000322146.8	-	5	2257	c.1736A>G	c.(1735-1737)gAg>gGg	p.E579G	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E579G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAAGGTTTCTCTCCCGTATG	0.398000													106	101					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66786236	66786236	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:66786236C>T	ENST00000359742.4	-	19	2556	c.2316G>A	c.(2314-2316)ttG>ttA	p.L772L	GRIP1_ENST00000286445.7_Silent_p.L772L|GRIP1_ENST00000398016.3_Silent_p.L720L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	772					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCAGGTCACTCAAATGGCTAG	0.488000													338	50					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910375	184910375	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:184910375C>G	ENST00000231887.3	-	7	1886	c.1811G>C	c.(1810-1812)aGa>aCa	p.R604T	EHHADH_ENST00000456310.1_Missense_Mutation_p.R508T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	604						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)	ATGGGTTTTTCTATACCGTGA	0.428000													22	97					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598084	62598084	+	Silent	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:62598084T>C	ENST00000450537.1	-	5	504	c.444A>G	c.(442-444)gcA>gcG	p.A148A	ZNF512B_ENST00000217130.3_Silent_p.A148A|ZNF512B_ENST00000369888.1_Silent_p.A148A			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TAGAGGTGAATGCGGCCTCGC	0.652000													10	23					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605682	171605682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:171605682C>G	ENST00000037502.6	-	3	969	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		E -> K (in GLC1A; uncertain pathogenicity).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGTCATACTCAAAAACCTGG	0.562000													7	49					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136062817	136062817	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:136062817C>G	ENST00000383202.2	-	30	3559	c.3303G>C	c.(3301-3303)agG>agC	p.R1101S	STAG1_ENST00000434713.2_Missense_Mutation_p.R841S|STAG1_ENST00000236698.5_Missense_Mutation_p.R1101S|STAG1_ENST00000536929.1_Missense_Mutation_p.R685S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1101					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						TGGTGTCAGTCCTGTTTAGCC	0.507000													6	45					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400913	78400913	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:78400913C>A	ENST00000397909.2	+	8	1768	c.1595C>A	c.(1594-1596)tCt>tAt	p.S532Y	NAV3_ENST00000536525.2_Missense_Mutation_p.S532Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S532Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S532Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	532						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAACCAGGCTCTAAAGTTCCA	0.468000										HNSCC(70;0.22)			6	21					0.00116845	0.00120959	1	1	0
N4BP1	9683	broad.mit.edu	37	16	48596026	48596026	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:48596026C>T	ENST00000262384.3	-	2	764	c.528G>A	c.(526-528)ttG>ttA	p.L176L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	176					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGGGCAAAATCAACAAATCCA	0.373000													5	22					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23757351	23757351	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:23757351C>T	ENST00000546136.1	-	8	1097	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	SOX5_ENST00000309359.1_Silent_p.K365K|SOX5_ENST00000381381.2_Silent_p.K365K|SOX5_ENST00000545921.1_Silent_p.K368K|SOX5_ENST00000541536.1_Silent_p.K365K|SOX5_ENST00000451604.2_Silent_p.K378K|SOX5_ENST00000537393.1_Silent_p.K343K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	378					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGTTTGTGCTCTTGTCTGTGT	0.468000													5	82					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156483	2156483	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:2156483G>A	ENST00000262304.4	-	18	7613	c.7405C>T	c.(7405-7407)Cgc>Tgc	p.R2469C	PKD1_ENST00000423118.1_Missense_Mutation_p.R2469C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2469	REJ.				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						AGCGGCGGGCGGTTGGGGGAC	0.711000													3	8					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52360925	52360925	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:52360925A>G	ENST00000296585.5	+	14	1929	c.1786A>G	c.(1786-1788)Atc>Gtc	p.I596V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	596					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCAGGGCACTATCCGCACAAA	0.388000													6	50					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235940493	235940493	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:235940493G>C	ENST00000389794.3	-	17	5504	c.5330C>G	c.(5329-5331)tCa>tGa	p.S1777*	LYST_ENST00000389793.2_Nonsense_Mutation_p.S1777*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1777					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACTTCTTTTGAGCTGAAGGG	0.373000													4	103					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847025	22847025	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:22847025C>G	ENST00000456783.2	+	4	798	c.554C>G	c.(553-555)tCt>tGt	p.S185C		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TCAAACCTTTCTACACATAAA	0.368000													14	34					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68384716	68384716	+	Silent	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:68384716A>G	ENST00000406334.3	-	8	1091	c.873T>C	c.(871-873)acT>acC	p.T291T							0																	TGTTGGCTGTAGTTATCCCCG	0.522000													7	37					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79595678	79595678	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr10:79595678G>A	ENST00000372391.2	-	8	1445	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	DLG5_ENST00000372388.2_Silent_p.I480I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	480					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)			CCGTGTCTTTGATCTGGTGGG	0.602000													4	49					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67984324	67984324	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:67984324G>A	ENST00000422611.2	-	11	1572	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	SLC12A4_ENST00000576616.1_Silent_p.I509I|SLC12A4_ENST00000537830.2_Silent_p.I503I|SLC12A4_ENST00000316341.3_Silent_p.I509I|SLC12A4_ENST00000572037.1_Silent_p.I461I|SLC12A4_ENST00000338335.3_Silent_p.I509I|SLC12A4_ENST00000541864.2_Silent_p.I478I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	509					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGAAGGAGCCGATGACGATGA	0.607000													4	24					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57173849	57173849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:57173849C>T	ENST00000504228.1	+	3	374	c.269C>T	c.(268-270)tCa>tTa	p.S90L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S83L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S90L			Q6ZU35	K1211_HUMAN	KIAA1211	90										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ATCGTCCTCTCAGACGCAGAG	0.517000													4	30					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161899	155161899	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:155161899G>A	ENST00000368395.1	-	2	305	c.234C>T	c.(232-234)gtC>gtT	p.V78V	MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	858						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCAGAGTGACATCCTGTC	0.627000			T	IGH@	B-NHL								21	66					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38171360	38171360	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr13:38171360C>T	ENST00000379747.4	-	2	296	c.179G>A	c.(178-180)tGt>tAt	p.C60Y	POSTN_ENST00000541481.1_Missense_Mutation_p.C60Y|POSTN_ENST00000379742.4_Missense_Mutation_p.C60Y|POSTN_ENST00000379749.4_Missense_Mutation_p.C60Y|POSTN_ENST00000541179.1_Missense_Mutation_p.C60Y|POSTN_ENST00000379743.4_Missense_Mutation_p.C60Y	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	60	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCAGTTCTTACAAGTGCTGAA	0.358000													5	61					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236761247	236761247	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:236761247C>T	ENST00000366582.3	-	5	648	c.534G>A	c.(532-534)ttG>ttA	p.L178L	HEATR1_ENST00000366581.2_Silent_p.L178L|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	178					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTGGGTAATCAAAGTTCCTT	0.358000													7	92					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219559281	219559281	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:219559281C>G	ENST00000295709.3	+	21	2713	c.2434C>G	c.(2434-2436)Cag>Gag	p.Q812E	STK36_ENST00000440309.1_Missense_Mutation_p.Q812E|STK36_ENST00000392105.3_Missense_Mutation_p.Q812E|STK36_ENST00000392106.2_Missense_Mutation_p.Q812E	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	812					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACAGCTTGGTCAGCAAGGGGT	0.567000													11	42					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97462811	97462811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:97462811G>A	ENST00000377075.2	+	2	1563	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_5'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	489	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCCCTTCTACGAGGTCCTGGG	0.577000													5	17					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													5	67					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78085475	78085475	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:78085475C>G	ENST00000316355.5	+	7	1110	c.754C>G	c.(754-756)Cta>Gta	p.L252V	CCNG2_ENST00000502280.1_Missense_Mutation_p.L252V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.L252V|CCNG2_ENST00000354403.5_Missense_Mutation_p.L252V|CCNG2_ENST00000509972.1_Missense_Mutation_p.L252V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	252					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTAAATGCCTAGCCGAGTA	0.413000													4	138					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654987	31654987	+	Silent	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr21:31654987C>A	ENST00000340345.4	-	1	289	c.264G>T	c.(262-264)ccG>ccT	p.P88P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	88						keratin filament	structural molecule activity	p.P88P(2)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGAGTTTGACGGGTCACAAC	0.567000													16	44					6.31663e-08	6.90367e-08	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55860941	55860941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:55860941C>G	ENST00000302124.2	+	1	189	c.158C>G	c.(157-159)tCt>tGt	p.S53C		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGAATGGATTCTCAGCTTCAC	0.373000													12	150					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176794475	176794475	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr5:176794475G>A	ENST00000408923.3	+	6	732	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	182	RGS.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GCTGTACCGCGAGTGCCTGCT	0.677000													7	13					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265036	15265036	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:15265036G>A	ENST00000253693.2	+	6	946	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	231					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATGTTGACCTGAGAGAACGTT	0.313000													13	87					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110111	57110111	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:57110111G>C	ENST00000454682.1	-	3	5484	c.5203C>G	c.(5203-5205)Cca>Gca	p.P1735A	NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					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						AGAGGGGCTGGAGCCACTGTG	0.498000			T	BCL6	NHL								10	148					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744848	54744848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:54744848G>A	ENST00000440558.2	-	5	862	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P272S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.P272S|LILRA6_ENST00000396365.2_Missense_Mutation_p.P272S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGCCTGGGGCTGCTGGCCA	0.632000													4	79					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049484	69049484	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:69049484G>C	ENST00000295381.3	+	10	1629	c.1210G>C	c.(1210-1212)Gat>Cat	p.D404H	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D398H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D365H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D405H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D397H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D98H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGCGACTCTGATACAACCAG	0.517000													24	133					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659242	52659242	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:52659242T>G	ENST00000322146.8	-	5	2215	c.1694A>C	c.(1693-1695)tAc>tCc	p.Y565S	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.Y565S	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTTTCCACTGTAATTGAAGAC	0.388000													97	118					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488000													4	150					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100405590	100405590	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:100405590G>A	ENST00000262233.6	+	21	2387	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	EML1_ENST00000334192.4_Missense_Mutation_p.E769K|EML1_ENST00000327921.9_Missense_Mutation_p.E738K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	750						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCGGGCCCATGAGAAGAAACT	0.537000													18	44					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050937	32050937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:32050937C>G	ENST00000271064.7	+	8	1119	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S317C	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	348					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCCTCGGCTCCAACGTAAGT	0.602000													8	49					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591129	14591129	+	Missense_Mutation	SNP	G	G	T	rs113312686	byFrequency	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:14591129G>T	ENST00000393033.4	-	6	912	c.643C>A	c.(643-645)Cgc>Agc	p.R215S	GIPC1_ENST00000393028.1_Missense_Mutation_p.R118S|GIPC1_ENST00000393029.3_Missense_Mutation_p.R118S|GIPC1_ENST00000591349.1_Missense_Mutation_p.R118S|GIPC1_ENST00000586027.1_Missense_Mutation_p.R215S|GIPC1_ENST00000345425.2_Missense_Mutation_p.R215S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	215					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AAGGCCTTGCGAGGCTCCGTG	0.721000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					0.000442599	0.000464729	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22574717	22574717	+	Silent	SNP	G	G	C	rs74170714		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:22574717G>C	ENST00000357774.5	-	4	1441	c.1320C>G	c.(1318-1320)ggC>ggG	p.G440G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAAAGCTTTGCCACATTCTT	0.378000													3	24					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20837594	20837594	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:20837594G>C	ENST00000262715.5	-	53	7605	c.7565C>G	c.(7564-7566)tCt>tGt	p.S2522C	TEP1_ENST00000556935.1_Missense_Mutation_p.S2414C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2522					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTGCAGGTAGATGGGTCTGT	0.502000													17	53					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46760937	46760937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:46760937C>A	ENST00000256689.5	-	6	847	c.403G>T	c.(403-405)Gaa>Taa	p.E135*	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	135					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCCAATTGTTCATATAATAAA	0.308000													12	77					0.000978159	0.00101978	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133191357	133191357	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:133191357C>G	ENST00000302334.2	+	6	1281	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	398	Tail.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CAAGTGCCAGCTGCAGAAGGA	0.647000													21	17					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256748	69256748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:69256748G>T	ENST00000439696.2	-	2	820	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.C173*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	173					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGATGAAGTGGCAGCGGGGCC	0.667000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	3					5.34276e-22	6.06475e-22	1	1	0
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552000													7	81					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33679277	33679277	+	Silent	SNP	C	C	T	rs74550830	byFrequency	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:33679277C>T	ENST00000354992.2	-	14	2359	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	LARGE_ENST00000337431.2_Silent_p.A544A|LARGE_ENST00000452586.2_Silent_p.A395A|LARGE_ENST00000437602.2_Intron|LARGE_ENST00000397394.2_Silent_p.A596A|LARGE_ENST00000402320.1_Silent_p.A544A	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	596					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGTCTCGAACGCGGGGACAA	0.547000													9	194					0	0	1	0	0
LSM10	84967	broad.mit.edu	37	1	36859525	36859525	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:36859525A>G	ENST00000315732.2	-	2	355	c.206T>C	c.(205-207)cTg>cCg	p.L69P	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	69					histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				GAGGTCATCCAGCTTGACCTG	0.552000													8	53					0	0	1	0	0
UBE2D4	51619	broad.mit.edu	37	7	43982618	43982618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:43982618C>G	ENST00000222402.3	+	4	275	c.186C>G	c.(184-186)ttC>ttG	p.F62L	POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Missense_Mutation_p.F24L|UBE2D4_ENST00000446008.1_Missense_Mutation_p.F62L	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						ATTACCCGTTCAAGCCCCCAA	0.488000													16	68					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822821	19822821	+	Silent	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:19822821T>C	ENST00000344099.3	-	4	1407	c.1269A>G	c.(1267-1269)caA>caG	p.Q423Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	423					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)				TTTTACCACATTGTTTACATT	0.388000													46	38					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648054	41648054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr21:41648054C>T	ENST00000400454.1	-	11	2803	c.2326G>A	c.(2326-2328)Gtc>Atc	p.V776I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	776	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACTTGCTGACGTCTGCGCCC	0.463000													13	59					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346235	37346235	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:37346235C>T	ENST00000373091.3	-	3	566	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	GRIK3_ENST00000373093.4_Splice_Site_p.G184R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	184					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCACCCACCTGTACTGTCG	0.632000													22	229					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88721789	88721789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:88721789C>G	ENST00000301012.3	-	7	744	c.715G>C	c.(715-717)Gag>Cag	p.E239Q		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	239					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CGGGCCATCTCCGCCATGCGC	0.667000													5	4					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574677	22574677	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:22574677T>C	ENST00000357774.5	-	4	1481	c.1360A>G	c.(1360-1362)Ata>Gta	p.I454V		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTATGAATTATCTTATGTGTA	0.363000													3	35					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486235	37486235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr10:37486235G>A	ENST00000374660.1	+	34	2929	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E825K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E825K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	997						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTGCCTTCGAGGTATTTAG	0.333000													6	209					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087209	207087209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:207087209C>G	ENST00000367091.3	-	2	411	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	FAIM3_ENST00000420007.2_Missense_Mutation_p.E90Q|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	90	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTGTTACCTCCACTAGGAAC	0.517000													15	74					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43589890	43589890	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:43589890C>T	ENST00000307126.5	-	11	1481	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	GTPBP2_ENST00000307114.7_Silent_p.V406V|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	494							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTCCGGGCTCACCATCACCA	0.572000													5	12					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:94924617C>A	ENST00000536441.1	-	3	629	c.293G>T	c.(292-294)cGc>cTc	p.R98L	SESN3_ENST00000278499.2_Missense_Mutation_p.R20L|SESN3_ENST00000393234.1_Missense_Mutation_p.R98L|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98L|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	98					cell cycle arrest	nucleus		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443000													54	11					7.47603e-22	8.45366e-22	1	1	0
TSSK3	81629	broad.mit.edu	37	1	32828315	32828315	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:32828315C>A	ENST00000373534.3	+	1	518	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	5					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GGAGGACTTTCTGCTCTCCAA	0.527000													8	50					5.18039e-06	5.59939e-06	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8808423	8808423	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:8808423T>C	ENST00000324436.3	-	1	749	c.629A>G	c.(628-630)cAg>cGg	p.Q210R		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	210						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTTGTAGCCCTGGAAGACGGG	0.682000													6	39					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													5	34					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701424	48701424	+	Missense_Mutation	SNP	G	G	A	rs139537448	byFrequency	TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:48701424G>A	ENST00000236495.5	+	11	1290	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V410M|SLC5A9_ENST00000438567.2_Missense_Mutation_p.V389M	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	389						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GATGATTGCCGTGATCATGGC	0.592000													3	39					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375875	375875	+	Silent	SNP	G	G	A	rs143456454		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:375875G>A	ENST00000342640.4	-	1	138	c.96C>T	c.(94-96)ctC>ctT	p.L32L	THEG_ENST00000346878.2_Silent_p.L32L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	32					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CAGAGCTCTGGAGGCCACGGG	0.662000													3	41					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													17	2					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91366471	91366471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:91366471C>T	ENST00000261991.3	-	11	1533	c.1360G>A	c.(1360-1362)Gtc>Atc	p.V454I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V375I|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.V454I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	454	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTATTTTGACTGCAAAAGCT	0.294000													20	29					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386800	45386800	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr15:45386800G>A	ENST00000389039.6	-	33	4870	c.4485C>T	c.(4483-4485)ttC>ttT	p.F1495F	DUOX2_ENST00000603300.1_Silent_p.F1495F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1495					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGAAGGGCTCGAAGGGGGGAC	0.637000													6	17					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173506089	173506089	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:173506089G>C	ENST00000367714.3	-	14	2069	c.1647C>G	c.(1645-1647)atC>atG	p.I549M	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I447M|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	549					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACTTTCCTTGGATGGAGTAAT	0.313000													21	164					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32676909	32676909	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:32676909G>A	ENST00000409358.1	+	2	303	c.303G>A	c.(301-303)aaG>aaA	p.K101K		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	101					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGGTGGGAAGAGCTGCAGAC	0.567000													12	12					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198281515	198281515	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:198281515G>C	ENST00000335508.6	-	6	707	c.616C>G	c.(616-618)Cag>Gag	p.Q206E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAGGAGTCTGATCAGCTGTT	0.408000			Mis		myelodysplastic syndrome								11	221					0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127174633	127174633	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr9:127174633G>C	ENST00000536392.1	-	4	409	c.393C>G	c.(391-393)ttC>ttG	p.F131L	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000259457.3_Missense_Mutation_p.F131L			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	131					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|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			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						AAACTTACCTGAAAAGCATCT	0.458000													5	68					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673157	39673157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:39673157C>T	ENST00000254043.3	-	3	4226	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	KRT15_ENST00000393981.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393974.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393976.2_Missense_Mutation_p.R214Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	214	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ATCCAGGACTCGGCGCAAGCC	0.592000													9	73					0	0	1	0	0
OIP5	11339	broad.mit.edu	37	15	41624617	41624617	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr15:41624617G>A	ENST00000220514.3	-	1	202	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	48					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCCGAGCGGCGAGGACCCCTT	0.677000													23	21					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022239	161022239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:161022239C>T	ENST00000368013.3	-	8	1251	c.931G>A	c.(931-933)Gag>Aag	p.E311K	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E134K|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E311K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	311					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCTGTCCTCAGCCCCCCGT	0.537000													16	416					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48896040	48896040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:48896040G>T	ENST00000508632.1	-	5	480	c.248C>A	c.(247-249)tCa>tAa	p.S83*	OCIAD2_ENST00000273860.4_Nonsense_Mutation_p.S83*|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	83	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TTTGGGCAATGATCCAAATCT	0.338000													3	42					0.000602214	0.000630075	1	1	0
MYADM	91663	broad.mit.edu	37	19	54376942	54376942	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:54376942G>A	ENST00000391769.2	+	3	439	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MYADM_ENST00000391770.4_Silent_p.L53L|MYADM_ENST00000336967.3_Silent_p.L53L|MYADM_ENST00000391768.2_Silent_p.L53L|MYADM_ENST00000391771.1_Silent_p.L53L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	53	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCTTCTCGCTGGTGGCTAGCG	0.652000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	38					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225468	64225468	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:64225468C>T	ENST00000205948.6	-	1	67	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	10					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGAGAAAACTCGAGAACAAGA	0.398000													4	30					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86868916	86868916	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chrX:86868916C>T	ENST00000373119.4	+	2	604	c.459C>T	c.(457-459)acC>acT	p.T153T	KLHL4_ENST00000373114.4_Silent_p.T153T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	153						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAATGCCACCAGATCTGAAG	0.343000													23	2					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435687	85435687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:85435687G>C	ENST00000359152.5	-	1	3384	c.3385C>G	c.(3385-3387)Ctt>Gtt	p.L1129V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L605V|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.L605V	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATTTCTTTAAGAAGTTTCTCA	0.443000													13	35					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103393653	103393653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:103393653C>G	ENST00000424685.2	-	5	712	c.553G>C	c.(553-555)Gat>Cat	p.D185H	RELN_ENST00000343529.5_Missense_Mutation_p.D185H|RELN_ENST00000428762.1_Missense_Mutation_p.D185H			P78509	RELN_HUMAN	reelin	185	Reelin.				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)		ACAGTGACATCTGTTGGAGCT	0.378000													8	77					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47549430	47549430	+	Splice_Site	SNP	A	A	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:47549430A>T	ENST00000455779.1	+	7	677		c.e7-1		PHKB_ENST00000299167.8_Splice_Site|PHKB_ENST00000566044.1_Splice_Site|PHKB_ENST00000567402.1_Splice_Site|PHKB_ENST00000323584.5_Splice_Site			Q93100	KPBB_HUMAN	phosphorylase kinase, beta						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGTTTGTTGCAGATAAATGCA	0.328000													5	23					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23349524	23349524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:23349524G>A	ENST00000338121.5	+	4	1662	c.1585G>A	c.(1585-1587)Gcc>Acc	p.A529T	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Missense_Mutation_p.A53T|GZF1_ENST00000377051.2_Missense_Mutation_p.A529T|GZF1_ENST00000542987.1_Missense_Mutation_p.A38T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	529					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGGACTTTTGCCCAGCGGAA	0.393000													8	111					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152070676	152070676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:152070676C>T	ENST00000409598.4	-	10	2120	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	SH3D19_ENST00000409252.2_Missense_Mutation_p.R318Q|SH3D19_ENST00000455740.1_Missense_Mutation_p.R318Q|SH3D19_ENST00000424281.1_Missense_Mutation_p.R282Q|SH3D19_ENST00000304527.4_Missense_Mutation_p.R318Q|SH3D19_ENST00000427414.2_Missense_Mutation_p.R282Q|SH3D19_ENST00000514152.1_Missense_Mutation_p.R318Q			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	318	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGGGGGTACTCGCACAAAACC	0.408000													15	106					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930337	46930337	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:46930337T>C	ENST00000264318.3	-	9	2552	c.1570A>G	c.(1570-1572)Att>Gtt	p.I524V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	524					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAAAGAGAATACGGGCATAT	0.413000													22	37					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304523	53304523	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:53304523T>A	ENST00000438150.2	-	2	1309	c.416A>T	c.(415-417)tAt>tTt	p.Y139F	ZNF28_ENST00000414252.2_Missense_Mutation_p.Y139F|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y192F|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y139F			P17035	ZNF28_HUMAN	zinc finger protein 28	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTATTTCCATACTTATTAGA	0.338000													5	154					0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47482504	47482504	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr17:47482504C>T	ENST00000300408.3	-	7	741	c.669G>A	c.(667-669)ctG>ctA	p.L223L	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	223					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			AGTTGGCAATCAGCTCAGCTG	0.562000													3	24					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79860220	79860220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:79860220G>T	ENST00000512733.1	-	1	372	c.159C>A	c.(157-159)taC>taA	p.Y53*	PAQR3_ENST00000295462.3_Nonsense_Mutation_p.Y53*|PAQR3_ENST00000380645.4_Nonsense_Mutation_p.Y53*	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	53						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TGGACGGCAGGTAGGCCCGGT	0.637000													6	58					0.00116845	0.00120959	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	43					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575180	61575180	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:61575180C>T	ENST00000398571.2	-	15	2186	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	704					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)			CCTGAAATATCATGTTCTGGG	0.438000													13	118					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133799572	133799572	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr11:133799572G>A	ENST00000321016.8	-	12	1855	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S542L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	542	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTACCAAACTGAGAATGTCTG	0.627000													8	17					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3085627	3085627	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:3085627C>T	ENST00000259808.4	+	6	1121	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	RIPK1_ENST00000541791.1_Missense_Mutation_p.R229W|RIPK1_ENST00000380409.2_Missense_Mutation_p.R275W|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	275	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCCGGAAGCTCGGCCGACATT	0.453000													4	26					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116445261	116445261	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:116445261C>T	ENST00000281928.3	-	11	2399	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	731					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTTGCATTTCTTGTTGGCTG	0.408000													6	77					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101517	27101517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:27101517C>T	ENST00000324856.7	+	18	5170	c.4799C>T	c.(4798-4800)tCt>tTt	p.S1600F	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1217F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1383F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1600					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCGCACCTCTCCTAGCAAG	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	29					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556530	52556530	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr18:52556530C>T	ENST00000262094.5	+	6	1064	c.543C>T	c.(541-543)atC>atT	p.I181I	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGGACTTAATCATGAAGCGAA	0.418000													25	5					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21154121	21154121	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:21154121A>G	ENST00000602326.1	-	30	4691	c.4108T>C	c.(4108-4110)Tgc>Cgc	p.C1370R	EIF4G3_ENST00000537738.1_Missense_Mutation_p.C854R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.C1364R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.C1370R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.C1084R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.C968R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.C1364R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1364					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTTGTTTGCATAGTAGGTGC	0.393000													25	17					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50216991	50216991	+	Silent	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:50216991C>T	ENST00000216267.8	-	1	1461	c.975G>A	c.(973-975)ctG>ctA	p.L325L	BRD1_ENST00000404034.1_Silent_p.L325L|BRD1_ENST00000457780.2_Silent_p.L325L|BRD1_ENST00000404760.1_Silent_p.L325L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	325					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTAGCATGTCAGTTTCCACC	0.577000													34	52					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411811	45411811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr19:45411811G>A	ENST00000252486.4	+	4	369	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	86	8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACGAGACCATGAAGGAGTTGA	0.677000													8	32					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18849689	18849689	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:18849689G>T	ENST00000446231.2	-	44	7596	c.7184C>A	c.(7183-7185)tCa>tAa	p.S2395*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S2395*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2395	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGCTCACATGAAAGCCTAAA	0.388000													4	30					0.00024832	0.000262612	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29592285	29592285	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:29592285G>A	ENST00000318184.5	-	26	3239	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1080					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					atatatgcatgatatatgtgt	0.313000													5	48					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46449919	46449919	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:46449919G>A	ENST00000399036.3	+	2	701	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CCRL2_ENST00000400880.3_Missense_Mutation_p.E117K|CCRL2_ENST00000400882.2_Missense_Mutation_p.E117K|CCRL2_ENST00000357392.4_Missense_Mutation_p.E129K	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CCTGTACAGTGAGACATTTTT	0.483000													4	73					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158074650	158074650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:158074650G>C	ENST00000359775.5	+	8	1948	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Q353H			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	353						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCAGTCACAGAGTGACATGG	0.607000													9	18					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3048515	3048515	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:3048515G>A	ENST00000448120.2	+	11	1285	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TULP3_ENST00000397132.2_Missense_Mutation_p.D412N	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	412					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGGCAGATGACGTGTTCAC	0.418000													33	196					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387776	77387776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:77387776G>A	ENST00000282849.5	-	10	1886	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	490	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CACCCCGCCTGAGGTGTGCTG	0.413000													4	75					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789894	30789894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:30789894G>A	ENST00000246229.4	-	2	352	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	30						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCCGGCCCCGAGGCCTGGGA	0.562000													7	57					0	0	1	0	0
UROD	7389	broad.mit.edu	37	1	45479660	45479660	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:45479660C>T	ENST00000246337.4	+	6	673	c.554C>T	c.(553-555)cCt>cTt	p.P185L	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	185						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TATCAGAGACCTCAGGCTAGT	0.552000									Porphyria Cutanea Tarda, Type II				10	85					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28365543	28365543	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr3:28365543T>C	ENST00000479665.1	-	8	1700	c.1169A>G	c.(1168-1170)tAt>tGt	p.Y390C	AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	390						mitochondrion|plasma membrane		p.Y390F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTAATTCTTATAAAGGCAGTT	0.368000													14	44					0	0	1	0	0
EPM2A	7957	broad.mit.edu	37	6	145956523	145956523	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:145956523G>A	ENST00000367519.3	-	3	1101	c.576C>T	c.(574-576)ttC>ttT	p.F192F	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	192					glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATTCAGTCTGGAAATTCATTA	0.443000													15	230					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175188	143175188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:143175188G>A	ENST00000408916.1	+	1	223	c.223G>A	c.(223-225)Gag>Aag	p.E75K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	75					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCAGAAGGTCGAGTACTCTGG	0.557000													11	45					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808551	48808551	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr2:48808551C>G	ENST00000309835.3	+	1	789	c.779C>G	c.(778-780)tCt>tGt	p.S260C	STON1_ENST00000404752.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S260C|STON1_ENST00000406226.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S260C					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)			GAAAATGCCTCTTCCTTTGTC	0.443000													38	33					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947660	237947660	+	Silent	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr1:237947660G>A	ENST00000366574.2	+	90	12965	c.12648G>A	c.(12646-12648)gcG>gcA	p.A4216A	RYR2_ENST00000360064.6_Silent_p.A4222A|RYR2_ENST00000542537.1_Silent_p.A4200A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGTCAGCGAATAAGGAAG	0.542000													4	31					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112512526	112512526	+	Silent	SNP	G	G	C			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:112512526G>C	ENST00000261745.4	-	9	1067	c.819C>G	c.(817-819)gtC>gtG	p.V273V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	273						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCAGTCGAAAGACAGAATCGA	0.398000													4	75					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183603113	183603113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:183603113G>A	ENST00000511685.1	+	11	2104	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	TENM3_ENST00000406950.2_Missense_Mutation_p.E661K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GTATCTTCAAGAAAGTGGCTC	0.502000													4	33					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3208558	3208558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr4:3208558C>T	ENST00000355072.5	+	44	6068	c.5923C>T	c.(5923-5925)Cag>Tag	p.Q1975*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1975					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAAAACTCTTCAGTGCTTGGA	0.458000													6	53					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121009011	121009011	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:121009011C>G	ENST00000325954.4	+	14	2520	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Missense_Mutation_p.L692V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	687					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGACCCCTCTGTCACCCAC	0.517000													3	37					0	0	1	0	0
SRSF3	6428	broad.mit.edu	37	6	36567603	36567603	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr6:36567603delC	ENST00000339436.7	+	4	463	c.347delC	c.(346-348)accfs	p.T116fs	SRSF3_ENST00000373715.6_Intron			P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	0	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TACAGAGTCACCATCATGTCT	0.433													7	18	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102883497	102883498	+	RNA	INS	-	-	A			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr7:102883497_102883498insA	ENST00000312132.4	-	0	2616																											AGTACCACTGTAAAAAAAAAAA	0.287													5	5	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													6	13	---	---	---	---					
OTOGL	283310	broad.mit.edu	37	12	80735808	80735808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr12:80735808delT	ENST00000458043.2	+	43	5110	c.5104delT	c.(5104-5106)tttfs	p.F1702fs	OTOGL_ENST00000547103.1_Frame_Shift_Del_p.F1690fs	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATAGGATTATTTATTGAGAG	0.343													2	4	---	---	---	---					
OR4K13	390433	broad.mit.edu	37	14	20502085	20502085	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr14:20502085delA	ENST00000315693.2	-	1	834	c.833delT	c.(832-834)ttcfs	p.F278fs		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAGAGGTGTGAAAATTGTGTA	0.333													19	0	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4714766	4714767	+	In_Frame_Ins	INS	-	-	GAAGGA			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr16:4714766_4714767insGAAGGA	ENST00000399577.5	+	6	711_712	c.618_619insGAAGGA	c.(619-621)gaa>GAAGGAgaa	p.207_207E>EGE	MGRN1_ENST00000588994.1_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000415496.1_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000262370.7_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000586183.1_In_Frame_Ins_p.207_207E>EGE	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	207					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGTGGTGGACGAAGGAGATGG	0.589													21	40	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30729605	30729618	+	Frame_Shift_Del	DEL	GCTCTACTCCAACC	GCTCTACTCCAACC	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr20:30729605_30729618delGCTCTACTCCAACC	ENST00000217315.5	+	5	724_737	c.384_397delGCTCTACTCCAACC	c.(382-399)gagctctactccaaccgafs	p.LYSNR129fs	TM9SF4_ENST00000398022.2_Frame_Shift_Del_p.LYSNR146fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	146						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCGGCTGGAGCTCTACTCCAACCGAGACAGCGA	0.570													8	103	---	---	---	---					
SCARF2	91179	broad.mit.edu	37	22	20791941	20791943	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:20791941_20791943delAGC	ENST00000405555.3	-	1	169_171	c.99_101delGCT	c.(97-102)ctgctc>ctc	p.33_34LL>L	SCARF2_ENST00000266214.5_In_Frame_Del_p.33_34LL>L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGCATCCAGagcagcagcagca	0.778													2	4	---	---	---	---					
CHEK2	11200	broad.mit.edu	37	22	29130581	29130582	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DK-AA6P-01A-11D-A391-08	TCGA-DK-AA6P-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf467e09-faf2-410c-ac6b-d156f5e5db5d	35ef7a6d-b6c9-48c9-ae87-ef42fe69933a	g.chr22:29130581_29130582delGG	ENST00000382580.2	-	2	203_204	c.128_129delCC	c.(127-129)accfs	p.T43fs	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382565.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382566.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.T43fs	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	43					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GCATCGTGCTGGTAGAGGAGCT	0.569			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					140	25	---	---	---	---					
